nsv3170257
- Organism: Homo sapiens
- Study:nstd156 (Fu et al. 2018)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,996
- 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: 574 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 574 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3170257 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nsv3170257 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nsv3170257 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14241579 | deletion | NGO_39 | SNP array | SNP genotyping analysis | 1 | 117 |
| nssv14243278 | deletion | NGO_50 | SNP array | SNP genotyping analysis | 0 | 121 |
| nssv14243690 | deletion | NGO_45 | SNP array | SNP genotyping analysis | 1 | 117 |
| nssv14244562 | deletion | NGO_41 | SNP array | SNP genotyping analysis | 1 | 111 |
| nssv14244954 | deletion | NGO_40 | SNP array | SNP genotyping analysis | 1 | 120 |
| nssv14245344 | deletion | MLY_7 | SNP array | SNP genotyping analysis | 1 | 127 |
| nssv14246358 | deletion | MLY_17 | SNP array | SNP genotyping analysis | 1 | 113 |
| nssv14247407 | deletion | PML_4 | SNP array | SNP genotyping analysis | 1 | 142 |
| nssv14247549 | deletion | NGO_25 | SNP array | SNP genotyping analysis | 1 | 145 |
| nssv14247941 | deletion | MLY_10 | SNP array | SNP genotyping analysis | 1 | 140 |
| nssv14248136 | deletion | NGO_48 | SNP array | SNP genotyping analysis | 1 | 118 |
| nssv14248733 | deletion | NGO_26 | SNP array | SNP genotyping analysis | 1 | 121 |
| nssv14250515 | deletion | NGO_54 | SNP array | SNP genotyping analysis | 1 | 114 |
| nssv14250629 | duplication | MLY_1 | SNP array | SNP genotyping analysis | 3 | 163 |
| nssv14250790 | deletion | NGO_23 | SNP array | SNP genotyping analysis | 1 | 127 |
| nssv14250899 | deletion | MLY_5 | SNP array | SNP genotyping analysis | 1 | 128 |
| nssv14251037 | deletion | NGO_53 | SNP array | SNP genotyping analysis | 0 | 124 |
| nssv14251820 | deletion | NGO_31 | SNP array | SNP genotyping analysis | 0 | 121 |
| nssv14251846 | deletion | NGO_52 | SNP array | SNP genotyping analysis | 1 | 123 |
| nssv14252491 | deletion | MLY_13 | SNP array | SNP genotyping analysis | 1 | 132 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14241579 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14243278 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14243690 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14244562 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14244954 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14245344 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14246358 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14247407 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14247549 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14247941 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14248136 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14248733 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14250515 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14250629 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14250790 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14250899 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14251037 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14251820 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14251846 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14252491 | Remapped | Perfect | NC_000007.14:g.(13 4100424_134100442) _(134114401_134114 419)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,424 | 134,100,442 | 134,114,401 | 134,114,419 |
| nssv14241579 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14243278 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14243690 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14244562 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14244954 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14245344 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14246358 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14247407 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14247549 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14247941 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14248136 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14248733 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14250515 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14250629 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14250790 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14250899 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14251037 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14251820 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14251846 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14252491 | Remapped | Perfect | NC_000007.13:g.(13 3785177_133785195) _(133799154_133799 172)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 133,785,177 | 133,785,195 | 133,799,154 | 133,799,172 |
| nssv14241579 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14243278 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14243690 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14244562 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14244954 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14245344 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14246358 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14247407 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14247549 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14247941 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14248136 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14248733 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14250515 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14250629 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14250790 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14250899 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14251037 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14251820 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14251846 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 | ||
| nssv14252491 | Submitted genomic | NC_000007.12:g.(13 3435717_133435735) _(133449694_133449 712)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 133,435,717 | 133,435,735 | 133,449,694 | 133,449,712 |