nsv4373953
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:100,220
- 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: 3162 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1464 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 2702 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4373953 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nsv4373953 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nsv4373953 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619422 | copy number gain | 1-0921-003 | SNP array | Genotyping | 27 |
| nssv15620751 | copy number gain | 1-1000-003 | SNP array | Genotyping | 22 |
| nssv15629660 | copy number gain | 1-0568-001 | SNP array | Genotyping | 21 |
| nssv15629677 | copy number gain | 1-0568-002 | SNP array | Genotyping | 20 |
| nssv15633839 | copy number gain | 10-1149-001 | SNP array | Genotyping | 17 |
| nssv15664010 | copy number gain | 5-0147-003 | SNP array | Genotyping | 19 |
| nssv15667737 | copy number gain | 7-0005-003 | SNP array | Genotyping | 23 |
| nssv15672284 | copy number gain | 9-0030-001 | SNP array | Genotyping | 25 |
| nssv15696765 | copy number gain | 216810 | SNP array | Genotyping | 25 |
| nssv15699721 | copy number gain | 199152 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619422 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15620751 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15629660 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15629677 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15633839 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15664010 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15667737 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15672284 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15696765 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15699721 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(913262_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 913,262 |
| nssv15619422 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15620751 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15629660 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15629677 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15633839 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15664010 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15667737 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15672284 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15696765 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15699721 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4621108 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,211,088 |
| nssv15619422 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15620751 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15629660 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15629677 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15633839 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15664010 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15667737 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15672284 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15696765 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 | ||
| nssv15699721 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4428845 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,288,454 |