nsv4373565
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,610
- Publication(s):Zarrei 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: 1958 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 943 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 1623 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4373565 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,136,728 |
| nsv4373565 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 838,834 |
| nsv4373565 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,187,492 | 44,214,094 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15642011 | copy number gain | 15-1127-004 | SNP array | Genotyping | 32 |
| nssv15645465 | copy number gain | 2-0210-002 | SNP array | Genotyping | 28 |
| nssv15646232 | copy number gain | 2-0003-001 | SNP array | Genotyping | 19 |
| nssv15653843 | copy number gain | 2-1568-001 | SNP array | Genotyping | 27 |
| nssv15669436 | copy number gain | 7-0240-004 | SNP array | Genotyping | 21 |
| nssv15675951 | copy number gain | 216163 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15642011 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(838834_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 838,834 |
| nssv15645465 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(838834_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 838,834 |
| nssv15646232 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(838834_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 838,834 |
| nssv15653843 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(838834_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 838,834 |
| nssv15669436 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(838834_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 838,834 |
| nssv15675951 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(838834_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 838,834 |
| nssv15642011 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4613672 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,136,728 |
| nssv15645465 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4613672 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,136,728 |
| nssv15646232 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4613672 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,136,728 |
| nssv15653843 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4613672 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,136,728 |
| nssv15669436 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4613672 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,136,728 |
| nssv15675951 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4613672 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,136,728 |
| nssv15642011 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4421409 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,214,094 | ||
| nssv15645465 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4421409 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,214,094 | ||
| nssv15646232 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4421409 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,214,094 | ||
| nssv15653843 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4421409 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,214,094 | ||
| nssv15669436 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4421409 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,214,094 | ||
| nssv15675951 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4421409 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,214,094 |