nsv4383173
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:105,259
- 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: 3199 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1473 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 2727 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383173 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nsv4383173 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nsv4383173 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15637856 | copy number gain | 14-0025-001 | SNP array | Genotyping | 19 |
| nssv15643561 | copy number gain | 16-1013-004 | SNP array | Genotyping | 27 |
| nssv15649546 | copy number gain | 2-1458-003 | SNP array | Genotyping | 24 |
| nssv15678211 | copy number gain | 184235 | SNP array | Genotyping | 24 |
| nssv15679727 | copy number gain | 192217 | SNP array | Genotyping | 19 |
| nssv15680252 | copy number gain | 222688 | SNP array | Genotyping | 20 |
| nssv15681023 | copy number gain | 181228 | SNP array | Genotyping | 21 |
| nssv15689339 | copy number gain | OCD100-1570 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15637856 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(917483_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nssv15643561 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(917483_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nssv15649546 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(917483_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nssv15678211 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(917483_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nssv15679727 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(917483_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nssv15680252 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(917483_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nssv15681023 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(917483_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nssv15689339 | Remapped | Good | NT_187663.1:g.(?_8 12225)_(917483_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 812,225 | 917,483 |
| nssv15637856 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4621531 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nssv15643561 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4621531 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nssv15649546 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4621531 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nssv15678211 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4621531 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nssv15679727 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4621531 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nssv15680252 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4621531 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nssv15681023 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4621531 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nssv15689339 | Remapped | Perfect | NC_000017.11:g.(?_ 46110126)_(4621531 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,126 | 46,215,310 |
| nssv15637856 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4429267 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 | ||
| nssv15643561 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4429267 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 | ||
| nssv15649546 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4429267 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 | ||
| nssv15678211 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4429267 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 | ||
| nssv15679727 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4429267 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 | ||
| nssv15680252 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4429267 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 | ||
| nssv15681023 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4429267 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 | ||
| nssv15689339 | Submitted genomic | NC_000017.10:g.(?_ 44187492)_(4429267 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,492 | 44,292,676 |