nsv3317594
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,895
- Publication(s):Frenkel et al. 2019
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: 507 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317594 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nsv3317594 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nsv3317594 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467939 | copy number loss | M2118 | SNP array | SNP genotyping analysis | 13 |
| nssv14467959 | copy number loss | M2121 | SNP array | SNP genotyping analysis | 17 |
| nssv14468379 | copy number loss | M2147 | SNP array | SNP genotyping analysis | 18 |
| nssv14468677 | copy number loss | M2175 | SNP array | SNP genotyping analysis | 20 |
| nssv14468701 | copy number loss | M2176 | SNP array | SNP genotyping analysis | 35 |
| nssv14468860 | copy number loss | M2186 | SNP array | SNP genotyping analysis | 15 |
| nssv14469072 | copy number loss | M2198 | SNP array | SNP genotyping analysis | 24 |
| nssv14469246 | copy number loss | M2218 | SNP array | SNP genotyping analysis | 21 |
| nssv14469466 | copy number loss | M2239 | SNP array | SNP genotyping analysis | 23 |
| nssv14469795 | copy number loss | M2269 | SNP array | SNP genotyping analysis | 19 |
| nssv14470165 | copy number loss | M2318 | SNP array | SNP genotyping analysis | 12 |
| nssv14471263 | copy number loss | M2428 | SNP array | SNP genotyping analysis | 23 |
| nssv14471581 | copy number loss | M2464 | SNP array | SNP genotyping analysis | 22 |
| nssv14471621 | copy number loss | M2466 | SNP array | SNP genotyping analysis | 14 |
| nssv14471770 | copy number loss | M2492 | SNP array | SNP genotyping analysis | 19 |
| nssv14471863 | copy number loss | M2498 | SNP array | SNP genotyping analysis | 22 |
| nssv14471910 | copy number loss | M2505 | SNP array | SNP genotyping analysis | 15 |
| nssv14471946 | copy number loss | M2507 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467939 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14467959 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14468379 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14468677 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14468701 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14468860 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14469072 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14469246 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14469466 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14469795 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14470165 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14471263 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14471581 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14471621 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14471770 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14471863 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14471910 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14471946 | Remapped | Perfect | NT_187516.1:g.(?_1 67917)_(178811_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 167,917 | 178,811 |
| nssv14467939 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14467959 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14468379 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14468677 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14468701 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14468860 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14469072 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14469246 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14469466 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14469795 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14470165 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14471263 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14471581 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14471621 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14471770 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14471863 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14471910 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14471946 | Remapped | Perfect | NC_000001.11:g.(?_ 245473613)_(245484 507_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,473,613 | 245,484,507 |
| nssv14467939 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14467959 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14468379 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14468677 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14468701 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14468860 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14469072 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14469246 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14469466 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14469795 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14470165 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14471263 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14471581 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14471621 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14471770 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14471863 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14471910 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 | ||
| nssv14471946 | Submitted genomic | NC_000001.10:g.(?_ 245636915)_(245647 809_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,636,915 | 245,647,809 |