nsv3170181
- Organism: Homo sapiens
- Study:nstd156 (Fu et al. 2018)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:254,177
- 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: 1433 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1433 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 453 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3170181 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,323,664 | 189,333,884 | 189,568,201 | 189,577,840 |
| nsv3170181 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,292,794 | 189,303,014 | 189,537,331 | 189,546,970 |
| nsv3170181 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 187,559,417 | 187,569,637 | 187,803,954 | 187,813,593 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14245872 | duplication | NGO_32 | SNP array | SNP genotyping analysis | 3 | 153 |
| nssv14248588 | deletion | MLY_15 | SNP array | SNP genotyping analysis | 1 | 146 |
| nssv14244721 | deletion | MLY_14 | SNP array | SNP genotyping analysis | 1 | 131 |
| nssv14249703 | deletion | MLY_2 | SNP array | SNP genotyping analysis | 1 | 128 |
| nssv14245323 | deletion | MLY_2 | SNP array | SNP genotyping analysis | 1 | 128 |
| nssv14242843 | deletion | MLY_14 | SNP array | SNP genotyping analysis | 1 | 131 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14245872 | Remapped | Perfect | NC_000001.11:g.(18 9323664_189333884) _(189427023_189429 779)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,323,664 | 189,333,884 | 189,427,023 | 189,429,779 |
| nssv14248588 | Remapped | Perfect | NC_000001.11:g.(18 9350983_189354541) _(189568201_189577 840)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,350,983 | 189,354,541 | 189,568,201 | 189,577,840 |
| nssv14244721 | Remapped | Perfect | NC_000001.11:g.(18 9357207_189358005) _(189484017_189484 414)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,358,005 | 189,484,017 | 189,484,414 |
| nssv14249703 | Remapped | Perfect | NC_000001.11:g.(18 9357207_189358005) _(189484017_189484 414)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,358,005 | 189,484,017 | 189,484,414 |
| nssv14245323 | Remapped | Perfect | NC_000001.11:g.(18 9484017_189484018) _(189557649_189559 350)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,484,017 | 189,484,018 | 189,557,649 | 189,559,350 |
| nssv14242843 | Remapped | Perfect | NC_000001.11:g.(18 9484017_189484018) _(189568201_189577 840)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,484,017 | 189,484,018 | 189,568,201 | 189,577,840 |
| nssv14245872 | Remapped | Perfect | NC_000001.10:g.(18 9292794_189303014) _(189396153_189398 909)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,292,794 | 189,303,014 | 189,396,153 | 189,398,909 |
| nssv14248588 | Remapped | Perfect | NC_000001.10:g.(18 9320113_189323671) _(189537331_189546 970)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,320,113 | 189,323,671 | 189,537,331 | 189,546,970 |
| nssv14244721 | Remapped | Perfect | NC_000001.10:g.(18 9326337_189327135) _(189453147_189453 544)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,327,135 | 189,453,147 | 189,453,544 |
| nssv14249703 | Remapped | Perfect | NC_000001.10:g.(18 9326337_189327135) _(189453147_189453 544)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,327,135 | 189,453,147 | 189,453,544 |
| nssv14245323 | Remapped | Perfect | NC_000001.10:g.(18 9453147_189453148) _(189526779_189528 480)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,453,147 | 189,453,148 | 189,526,779 | 189,528,480 |
| nssv14242843 | Remapped | Perfect | NC_000001.10:g.(18 9453147_189453148) _(189537331_189546 970)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,453,147 | 189,453,148 | 189,537,331 | 189,546,970 |
| nssv14245872 | Submitted genomic | NC_000001.9:g.(187 559417_187569637)_ (187662776_1876655 32)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,559,417 | 187,569,637 | 187,662,776 | 187,665,532 | ||
| nssv14248588 | Submitted genomic | NC_000001.9:g.(187 586736_187590294)_ (187803954_1878135 93)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,586,736 | 187,590,294 | 187,803,954 | 187,813,593 | ||
| nssv14244721 | Submitted genomic | NC_000001.9:g.(187 592960_187593758)_ (187719770_1877201 67)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,593,758 | 187,719,770 | 187,720,167 | ||
| nssv14249703 | Submitted genomic | NC_000001.9:g.(187 592960_187593758)_ (187719770_1877201 67)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,593,758 | 187,719,770 | 187,720,167 | ||
| nssv14245323 | Submitted genomic | NC_000001.9:g.(187 719770_187719771)_ (187793402_1877951 03)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,719,770 | 187,719,771 | 187,793,402 | 187,795,103 | ||
| nssv14242843 | Submitted genomic | NC_000001.9:g.(187 719770_187719771)_ (187803954_1878135 93)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,719,770 | 187,719,771 | 187,803,954 | 187,813,593 |