nsv3169751
- Organism: Homo sapiens
- Study:nstd156 (Fu et al. 2018)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,718
- 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: 390 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3169751 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 80,564,619 | 80,566,048 | 80,588,760 | 80,589,336 |
| nsv3169751 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 81,274,336 | 81,275,765 | 81,298,477 | 81,299,053 |
| nsv3169751 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 81,331,055 | 81,332,484 | 81,355,196 | 81,355,772 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14248819 | deletion | MLY_7 | SNP array | SNP genotyping analysis | 1 | 127 |
| nssv14244459 | deletion | NGO_31 | SNP array | SNP genotyping analysis | 1 | 121 |
| nssv14244896 | deletion | MLY_15 | SNP array | SNP genotyping analysis | 1 | 146 |
| nssv14243501 | deletion | MLY_11 | SNP array | SNP genotyping analysis | 1 | 128 |
| nssv14240958 | deletion | PML_3 | SNP array | SNP genotyping analysis | 1 | 132 |
| nssv14242332 | deletion | NGO_21 | SNP array | SNP genotyping analysis | 1 | 129 |
| nssv14243649 | deletion | MLY_6 | SNP array | SNP genotyping analysis | 1 | 132 |
| nssv14243741 | deletion | MLY_2 | SNP array | SNP genotyping analysis | 1 | 128 |
| nssv14244243 | deletion | PML_4 | SNP array | SNP genotyping analysis | 0 | 142 |
| nssv14245180 | deletion | NGO_55 | SNP array | SNP genotyping analysis | 1 | 111 |
| nssv14246239 | duplication | NGO_32 | SNP array | SNP genotyping analysis | 3 | 153 |
| nssv14247468 | deletion | PML_1 | SNP array | SNP genotyping analysis | 1 | 153 |
| nssv14248011 | deletion | NGO_42 | SNP array | SNP genotyping analysis | 1 | 116 |
| nssv14248621 | deletion | NGO_20 | SNP array | SNP genotyping analysis | 1 | 131 |
| nssv14249188 | deletion | MLY_13 | SNP array | SNP genotyping analysis | 0 | 132 |
| nssv14249436 | deletion | NGO_15 | SNP array | SNP genotyping analysis | 1 | 124 |
| nssv14250453 | deletion | NGO_13 | SNP array | SNP genotyping analysis | 1 | 109 |
| nssv14250654 | deletion | MLY_9 | SNP array | SNP genotyping analysis | 1 | 142 |
| nssv14250771 | deletion | NGO_3 | SNP array | SNP genotyping analysis | 1 | 145 |
| nssv14241140 | deletion | MLY_10 | SNP array | SNP genotyping analysis | 1 | 140 |
| nssv14245258 | deletion | NGO_16 | SNP array | SNP genotyping analysis | 1 | 117 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14248819 | Remapped | Perfect | NC_000006.12:g.(80 564619_80566048)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,564,619 | 80,566,048 | 80,579,817 | 80,584,624 |
| nssv14244459 | Remapped | Perfect | NC_000006.12:g.(80 566395_80568268)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,566,395 | 80,568,268 | 80,579,817 | 80,584,624 |
| nssv14244896 | Remapped | Perfect | NC_000006.12:g.(80 566395_80568268)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,566,395 | 80,568,268 | 80,579,817 | 80,584,624 |
| nssv14243501 | Remapped | Perfect | NC_000006.12:g.(80 566395_80568268)_( 80585386_80588760) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,566,395 | 80,568,268 | 80,585,386 | 80,588,760 |
| nssv14240958 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14242332 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14243649 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14243741 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14244243 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14245180 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14246239 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14247468 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14248011 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14248621 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14249188 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14249436 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14250453 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14250654 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14250771 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,579,817 | 80,584,624 |
| nssv14241140 | Remapped | Perfect | NC_000006.12:g.(80 568270_80574472)_( 80588760_80589336) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,568,270 | 80,574,472 | 80,588,760 | 80,589,336 |
| nssv14245258 | Remapped | Perfect | NC_000006.12:g.(80 575042_80575241)_( 80579817_80584624) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,575,042 | 80,575,241 | 80,579,817 | 80,584,624 |
| nssv14248819 | Remapped | Perfect | NC_000006.11:g.(81 274336_81275765)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,274,336 | 81,275,765 | 81,289,534 | 81,294,341 |
| nssv14244459 | Remapped | Perfect | NC_000006.11:g.(81 276112_81277985)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,276,112 | 81,277,985 | 81,289,534 | 81,294,341 |
| nssv14244896 | Remapped | Perfect | NC_000006.11:g.(81 276112_81277985)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,276,112 | 81,277,985 | 81,289,534 | 81,294,341 |
| nssv14243501 | Remapped | Perfect | NC_000006.11:g.(81 276112_81277985)_( 81295103_81298477) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,276,112 | 81,277,985 | 81,295,103 | 81,298,477 |
| nssv14240958 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14242332 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14243649 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14243741 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14244243 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14245180 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14246239 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14247468 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14248011 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14248621 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14249188 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14249436 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14250453 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14250654 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14250771 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,289,534 | 81,294,341 |
| nssv14241140 | Remapped | Perfect | NC_000006.11:g.(81 277987_81284189)_( 81298477_81299053) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,277,987 | 81,284,189 | 81,298,477 | 81,299,053 |
| nssv14245258 | Remapped | Perfect | NC_000006.11:g.(81 284759_81284958)_( 81289534_81294341) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 81,284,759 | 81,284,958 | 81,289,534 | 81,294,341 |
| nssv14248819 | Submitted genomic | NC_000006.10:g.(81 331055_81332484)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,331,055 | 81,332,484 | 81,346,253 | 81,351,060 | ||
| nssv14244459 | Submitted genomic | NC_000006.10:g.(81 332831_81334704)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,332,831 | 81,334,704 | 81,346,253 | 81,351,060 | ||
| nssv14244896 | Submitted genomic | NC_000006.10:g.(81 332831_81334704)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,332,831 | 81,334,704 | 81,346,253 | 81,351,060 | ||
| nssv14243501 | Submitted genomic | NC_000006.10:g.(81 332831_81334704)_( 81351822_81355196) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,332,831 | 81,334,704 | 81,351,822 | 81,355,196 | ||
| nssv14240958 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14242332 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14243649 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14243741 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14244243 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14245180 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14246239 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14247468 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14248011 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14248621 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14249188 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14249436 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14250453 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14250654 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14250771 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,346,253 | 81,351,060 | ||
| nssv14241140 | Submitted genomic | NC_000006.10:g.(81 334706_81340908)_( 81355196_81355772) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,334,706 | 81,340,908 | 81,355,196 | 81,355,772 | ||
| nssv14245258 | Submitted genomic | NC_000006.10:g.(81 341478_81341677)_( 81346253_81351060) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 81,341,478 | 81,341,677 | 81,346,253 | 81,351,060 |