nsv3169639
- 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:14,279
- 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: 376 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 168 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3169639 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nsv3169639 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nsv3169639 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14242992 | duplication | NGO_23 | SNP array | SNP genotyping analysis | 4 | 127 |
| nssv14241500 | deletion | MLY_2 | SNP array | SNP genotyping analysis | 1 | 128 |
| nssv14241623 | deletion | NGO_43 | SNP array | SNP genotyping analysis | 1 | 132 |
| nssv14242993 | deletion | PML_4 | SNP array | SNP genotyping analysis | 1 | 142 |
| nssv14244522 | deletion | PML_1 | SNP array | SNP genotyping analysis | 1 | 153 |
| nssv14244761 | deletion | NGO_39 | SNP array | SNP genotyping analysis | 1 | 117 |
| nssv14245757 | deletion | NGO_22 | SNP array | SNP genotyping analysis | 1 | 126 |
| nssv14246414 | deletion | NGO_26 | SNP array | SNP genotyping analysis | 1 | 121 |
| nssv14246864 | deletion | NGO_50 | SNP array | SNP genotyping analysis | 1 | 121 |
| nssv14246945 | deletion | NGO_32 | SNP array | SNP genotyping analysis | 1 | 153 |
| nssv14248947 | deletion | PML_2 | SNP array | SNP genotyping analysis | 1 | 148 |
| nssv14249490 | deletion | NGO_51 | SNP array | SNP genotyping analysis | 1 | 121 |
| nssv14249726 | deletion | NGO_24 | SNP array | SNP genotyping analysis | 1 | 155 |
| nssv14249745 | deletion | NGO_14 | SNP array | SNP genotyping analysis | 1 | 129 |
| nssv14250120 | deletion | NGO_25 | SNP array | SNP genotyping analysis | 1 | 145 |
| nssv14250204 | deletion | SNI_9 | SNP array | SNP genotyping analysis | 1 | 128 |
| nssv14250662 | deletion | NGO_6 | SNP array | SNP genotyping analysis | 1 | 141 |
| nssv14250727 | deletion | SNI_5 | SNP array | SNP genotyping analysis | 1 | 124 |
| nssv14250986 | deletion | NGO_28 | SNP array | SNP genotyping analysis | 1 | 139 |
| nssv14251660 | deletion | NGO_46 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14242992 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157547419_157557 990)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,547,419 | 157,557,990 |
| nssv14241500 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14241623 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14242993 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14244522 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14244761 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14245757 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14246414 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14246864 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14246945 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14248947 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14249490 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14249726 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14249745 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14250120 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14250204 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14250662 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14250727 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14250986 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14251660 | Remapped | Perfect | NC_000007.14:g.(15 7544783_157545672) _(157558146_157559 061)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 157,544,783 | 157,545,672 | 157,558,146 | 157,559,061 |
| nssv14242992 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157340113_157350 684)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,340,113 | 157,350,684 |
| nssv14241500 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14241623 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14242993 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14244522 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14244761 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14245757 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14246414 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14246864 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14246945 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14248947 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14249490 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14249726 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14249745 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14250120 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14250204 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14250662 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14250727 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14250986 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14251660 | Remapped | Perfect | NC_000007.13:g.(15 7337477_157338366) _(157350840_157351 755)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 157,337,477 | 157,338,366 | 157,350,840 | 157,351,755 |
| nssv14242992 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157032874_157043 445)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,032,874 | 157,043,445 | ||
| nssv14241500 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14241623 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14242993 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14244522 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14244761 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14245757 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14246414 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14246864 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14246945 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14248947 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14249490 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14249726 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14249745 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14250120 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14250204 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14250662 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14250727 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14250986 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 | ||
| nssv14251660 | Submitted genomic | NC_000007.12:g.(15 7030238_157031127) _(157043601_157044 516)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,030,238 | 157,031,127 | 157,043,601 | 157,044,516 |