nsv4377904
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:28
- Validation:Not tested
- Clinical Assertions: No
- Region Size:124,751
- 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: 1530 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1497 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377904 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nsv4377904 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612006 | copy number loss | 1-0640-003 | SNP array | Genotyping | 19 |
| nssv15615341 | copy number loss | 1-0768-003 | SNP array | Genotyping | 18 |
| nssv15616054 | copy number loss | 1-0144-002 | SNP array | Genotyping | 15 |
| nssv15616289 | copy number loss | 1-0144-005 | SNP array | Genotyping | 10 |
| nssv15617757 | copy number loss | 1-0153-005 | SNP array | Genotyping | 15 |
| nssv15629170 | copy number loss | 1-0565-004 | SNP array | Genotyping | 15 |
| nssv15629854 | copy number loss | 1-0083-004 | SNP array | Genotyping | 23 |
| nssv15630145 | copy number loss | 1-0634-003 | SNP array | Genotyping | 18 |
| nssv15631843 | copy number loss | 10-1005-001 | SNP array | Genotyping | 17 |
| nssv15632565 | copy number loss | 10-1005-004 | SNP array | Genotyping | 16 |
| nssv15634490 | copy number loss | 11-0046-003 | SNP array | Genotyping | 15 |
| nssv15635964 | copy number loss | 12-4264-003 | SNP array | Genotyping | 22 |
| nssv15638110 | copy number loss | 14-0103-003 | SNP array | Genotyping | 22 |
| nssv15646039 | copy number loss | 16-1011-004 | SNP array | Genotyping | 17 |
| nssv15650054 | copy number loss | 2-1292-003 | SNP array | Genotyping | 17 |
| nssv15656315 | copy number loss | 4-0001-005 | SNP array | Genotyping | 17 |
| nssv15662823 | copy number loss | 5-0139-001 | SNP array | Genotyping | 30 |
| nssv15663991 | copy number loss | 5-0144-001 | SNP array | Genotyping | 23 |
| nssv15667490 | copy number loss | 5-0144-003 | SNP array | Genotyping | 30 |
| nssv15673677 | copy number loss | 169151 | SNP array | Genotyping | 17 |
| nssv15673914 | copy number loss | 9-0025-002 | SNP array | Genotyping | 22 |
| nssv15680034 | copy number loss | 229191S | SNP array | Genotyping | 33 |
| nssv15686564 | copy number loss | OCD150-TC-1480 | SNP array | Genotyping | 18 |
| nssv15688960 | copy number loss | 225334 | SNP array | Genotyping | 19 |
| nssv15693842 | copy number loss | OCD70-896292 | SNP array | Genotyping | 28 |
| nssv15695959 | copy number loss | 150331 | SNP array | Genotyping | 19 |
| nssv15697217 | copy number loss | 150332 | SNP array | Genotyping | 17 |
| nssv15699184 | copy number loss | 202632 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612006 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15615341 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15616054 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15616289 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15617757 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15629170 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15629854 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15630145 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15631843 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15632565 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15634490 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15635964 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15638110 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15646039 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15650054 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15656315 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15662823 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15663991 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15667490 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15673677 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15673914 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15680034 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15686564 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15688960 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15693842 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15695959 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15697217 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15699184 | Remapped | Perfect | NC_000019.10:g.(?_ 20413312)_(2053806 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,413,312 | 20,538,062 |
| nssv15612006 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15615341 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15616054 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15616289 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15617757 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15629170 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15629854 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15630145 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15631843 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15632565 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15634490 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15635964 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15638110 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15646039 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15650054 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15656315 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15662823 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15663991 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15667490 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15673677 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15673914 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15680034 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15686564 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15688960 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15693842 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15695959 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15697217 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 | ||
| nssv15699184 | Submitted genomic | NC_000019.9:g.(?_2 0596118)_(20720868 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,596,118 | 20,720,868 |