nsv3169614
- Organism: Homo sapiens
- Study:nstd156 (Fu et al. 2018)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:24
- Validation:Not tested
- Clinical Assertions: No
- Region Size:82,878
- Publication(s):Fu et al. 2018
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2676 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2676 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1291 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3169614 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,332,092 | 78,336,049 |
nsv3169614 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,041,809 | 79,045,766 |
nsv3169614 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,098,528 | 79,102,485 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14240951 | deletion | MLY_14 | SNP array | SNP genotyping analysis | 1 | 131 |
nssv14240996 | deletion | NGO_19 | SNP array | SNP genotyping analysis | 1 | 107 |
nssv14242089 | deletion | NGO_35 | SNP array | SNP genotyping analysis | 1 | 111 |
nssv14242111 | deletion | NGO_2 | SNP array | SNP genotyping analysis | 1 | 125 |
nssv14243096 | deletion | NGO_18 | SNP array | SNP genotyping analysis | 1 | 119 |
nssv14244952 | deletion | NGO_30 | SNP array | SNP genotyping analysis | 1 | 117 |
nssv14245112 | deletion | NGO_42 | SNP array | SNP genotyping analysis | 1 | 116 |
nssv14245677 | deletion | NGO_6 | SNP array | SNP genotyping analysis | 1 | 141 |
nssv14247260 | deletion | NGO_1 | SNP array | SNP genotyping analysis | 1 | 139 |
nssv14247327 | deletion | NGO_33 | SNP array | SNP genotyping analysis | 1 | 124 |
nssv14247963 | deletion | NGO_3 | SNP array | SNP genotyping analysis | 0 | 145 |
nssv14248177 | deletion | NGO_34 | SNP array | SNP genotyping analysis | 0 | 122 |
nssv14248713 | deletion | NGO_51 | SNP array | SNP genotyping analysis | 1 | 121 |
nssv14249037 | deletion | MLY_4 | SNP array | SNP genotyping analysis | 1 | 145 |
nssv14249488 | deletion | SNI_3 | SNP array | SNP genotyping analysis | 1 | 121 |
nssv14249533 | deletion | SNI_6 | SNP array | SNP genotyping analysis | 1 | 131 |
nssv14249772 | deletion | NGO_31 | SNP array | SNP genotyping analysis | 0 | 121 |
nssv14250237 | deletion | NGO_4 | SNP array | SNP genotyping analysis | 1 | 126 |
nssv14250564 | deletion | MLY_12 | SNP array | SNP genotyping analysis | 1 | 122 |
nssv14250660 | deletion | SNI_2 | SNP array | SNP genotyping analysis | 1 | 109 |
nssv14251214 | deletion | NGO_15 | SNP array | SNP genotyping analysis | 1 | 124 |
nssv14251692 | deletion | NGO_55 | SNP array | SNP genotyping analysis | 1 | 111 |
nssv14252127 | deletion | SNI_11 | SNP array | SNP genotyping analysis | 1 | 129 |
nssv14241114 | deletion | NGO_44 | SNP array | SNP genotyping analysis | 1 | 101 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv14240951 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14240996 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14242089 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14242111 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14243096 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14244952 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14245112 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14245677 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14247260 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14247327 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14247963 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14248177 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14248713 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14249037 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14249488 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14249533 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14249772 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14250237 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14250564 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14250660 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14251214 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14251692 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14252127 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78325468_78329517) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,325,468 | 78,329,517 |
nssv14241114 | Remapped | Perfect | NC_000006.12:g.(78 253172_78259348)_( 78332092_78336049) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,253,172 | 78,259,348 | 78,332,092 | 78,336,049 |
nssv14240951 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14240996 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14242089 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14242111 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14243096 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14244952 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14245112 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14245677 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14247260 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14247327 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14247963 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14248177 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14248713 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14249037 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14249488 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14249533 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14249772 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14250237 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14250564 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14250660 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14251214 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14251692 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14252127 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79035185_79039234) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,035,185 | 79,039,234 |
nssv14241114 | Remapped | Perfect | NC_000006.11:g.(78 962889_78969065)_( 79041809_79045766) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,962,889 | 78,969,065 | 79,041,809 | 79,045,766 |
nssv14240951 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14240996 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14242089 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14242111 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14243096 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14244952 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14245112 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14245677 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14247260 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14247327 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14247963 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14248177 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14248713 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14249037 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14249488 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14249533 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14249772 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14250237 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14250564 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14250660 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14251214 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14251692 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14252127 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79091904_79095953) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,091,904 | 79,095,953 | ||
nssv14241114 | Submitted genomic | NC_000006.10:g.(79 019608_79025784)_( 79098528_79102485) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,019,608 | 79,025,784 | 79,098,528 | 79,102,485 |