nsv4375250
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:37
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,589
- 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: 2240 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4375250 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nsv4375250 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612719 | copy number gain | 1-0646-003 | SNP array | Genotyping | 24 |
| nssv15614790 | copy number gain | 1-0756-003 | SNP array | Genotyping | 18 |
| nssv15621643 | copy number gain | 1-1007-003 | SNP array | Genotyping | 23 |
| nssv15622047 | copy number gain | 1-1042-003 | SNP array | Genotyping | 25 |
| nssv15625478 | copy number gain | 1-0414-004 | SNP array | Genotyping | 20 |
| nssv15625705 | copy number gain | 1-0346-002 | SNP array | Genotyping | 21 |
| nssv15625743 | copy number gain | 1-0346-004 | SNP array | Genotyping | 10 |
| nssv15625755 | copy number gain | 1-0346-003 | SNP array | Genotyping | 18 |
| nssv15626875 | copy number gain | 1-0456-001 | SNP array | Genotyping | 23 |
| nssv15627253 | copy number gain | 1-0481-001 | SNP array | Genotyping | 16 |
| nssv15628610 | copy number gain | 1-0059-004 | SNP array | Genotyping | 20 |
| nssv15629961 | copy number gain | 1-0595-005 | SNP array | Genotyping | 21 |
| nssv15630628 | copy number gain | 1-0599-001 | SNP array | Genotyping | 18 |
| nssv15630725 | copy number gain | 1-0619-003 | SNP array | Genotyping | 25 |
| nssv15630934 | copy number gain | 1-0630-003 | SNP array | Genotyping | 28 |
| nssv15646116 | copy number gain | 16-1023-002 | SNP array | Genotyping | 19 |
| nssv15651796 | copy number gain | 2-1569-003 | SNP array | Genotyping | 16 |
| nssv15661179 | copy number gain | 5-0054-002 | SNP array | Genotyping | 18 |
| nssv15662684 | copy number gain | 5-0128-001 | SNP array | Genotyping | 18 |
| nssv15662789 | copy number gain | 5-0138-003 | SNP array | Genotyping | 26 |
| nssv15663490 | copy number gain | 5-0133-001 | SNP array | Genotyping | 15 |
| nssv15666311 | copy number gain | 5-0124-002 | SNP array | Genotyping | 25 |
| nssv15667066 | copy number gain | 7-0117-004 | SNP array | Genotyping | 24 |
| nssv15667784 | copy number gain | 7-0073-003 | SNP array | Genotyping | 21 |
| nssv15672666 | copy number gain | 9-0012-002 | SNP array | Genotyping | 24 |
| nssv15672705 | copy number gain | 7-0336-001 | SNP array | Genotyping | 22 |
| nssv15675679 | copy number gain | 206766 | SNP array | Genotyping | 30 |
| nssv15678370 | copy number gain | 208583 | SNP array | Genotyping | 20 |
| nssv15694799 | copy number gain | 199160 | SNP array | Genotyping | 20 |
| nssv15694838 | copy number gain | 220587 | SNP array | Genotyping | 14 |
| nssv15696107 | copy number gain | 197232 | SNP array | Genotyping | 24 |
| nssv15697730 | copy number gain | 176792 | SNP array | Genotyping | 13 |
| nssv15699039 | copy number gain | 194735 | SNP array | Genotyping | 21 |
| nssv15699075 | copy number gain | 196900 | SNP array | Genotyping | 18 |
| nssv15699795 | copy number gain | 80447 | SNP array | Genotyping | 25 |
| nssv15700353 | copy number gain | 201955 | SNP array | Genotyping | 21 |
| nssv15701705 | copy number gain | 213672 | SNP array | Genotyping | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612719 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15614790 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15621643 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15622047 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15625478 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15625705 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15625743 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15625755 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15626875 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15627253 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15628610 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15629961 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15630628 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15630725 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15630934 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15646116 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15651796 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15661179 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15662684 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15662789 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15663490 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15666311 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15667066 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15667784 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15672666 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15672705 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15675679 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15678370 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15694799 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15694838 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15696107 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15697730 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15699039 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15699075 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15699795 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15700353 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15701705 | Remapped | Perfect | NC_000010.11:g.(?_ 46217728)_(4623831 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,217,728 | 46,238,316 |
| nssv15612719 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15614790 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15621643 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15622047 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15625478 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15625705 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15625743 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15625755 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15626875 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15627253 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15628610 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15629961 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15630628 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15630725 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15630934 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15646116 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15651796 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15661179 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15662684 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15662789 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15663490 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15666311 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15667066 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15667784 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15672666 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15672705 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15675679 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15678370 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15694799 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15694838 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15696107 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15697730 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15699039 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15699075 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15699795 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15700353 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 | ||
| nssv15701705 | Submitted genomic | NC_000010.10:g.(?_ 47588964)_(4760955 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,588,964 | 47,609,552 |