nsv4386038
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,821
- 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: 2458 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2465 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386038 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nsv4386038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15617928 | copy number loss | 1-0876-003 | SNP array | Genotyping | 25 |
| nssv15623685 | copy number loss | 1-0275-002 | SNP array | Genotyping | 33 |
| nssv15627842 | copy number gain | 1-0449-004 | SNP array | Genotyping | 23 |
| nssv15634019 | copy number loss | 11-0021-003 | SNP array | Genotyping | 26 |
| nssv15634855 | copy number loss | 12-8214-003 | SNP array | Genotyping | 24 |
| nssv15639527 | copy number loss | 14-0231-004 | SNP array | Genotyping | 23 |
| nssv15639884 | copy number loss | 14-0250-004 | SNP array | Genotyping | 30 |
| nssv15640353 | copy number loss | 14-0152-001 | SNP array | Genotyping | 22 |
| nssv15640896 | copy number loss | 14-0312-003 | SNP array | Genotyping | 24 |
| nssv15647822 | copy number gain | 2-1280-001 | SNP array | Genotyping | 16 |
| nssv15647895 | copy number gain | 2-1314-001 | SNP array | Genotyping | 21 |
| nssv15665715 | copy number gain | 7-0086-003 | SNP array | Genotyping | 16 |
| nssv15670390 | copy number loss | 7-0170-003 | SNP array | Genotyping | 31 |
| nssv15676048 | copy number gain | 160689 | SNP array | Genotyping | 17 |
| nssv15680371 | copy number loss | 239187S | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15617928 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15623685 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15627842 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15634019 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15634855 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15639527 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15639884 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15640353 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15640896 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15647822 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15647895 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15665715 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15670390 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15676048 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15680371 | Remapped | Perfect | NC_000011.10:g.(?_ 55606700)_(5568552 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,606,700 | 55,685,520 |
| nssv15617928 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15623685 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15627842 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15634019 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15634855 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15639527 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15639884 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15640353 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15640896 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15647822 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15647895 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15665715 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15670390 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15676048 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 | ||
| nssv15680371 | Submitted genomic | NC_000011.9:g.(?_5 5374176)_(55452996 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,374,176 | 55,452,996 |