nsv6620474
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:32,318
- Publication(s):Zarrei et al. 2023
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: 1994 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 996 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,549,659 | 46,581,976 |
| nsv6620474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,967,641 | 46,999,958 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283232 | duplication | OSC0237 | SNP array | Probe signal intensity | 7 |
| nssv18283610 | duplication | OSC0243 | SNP array | Probe signal intensity | 6 |
| nssv18283989 | duplication | OSC0249 | SNP array | Probe signal intensity | 9 |
| nssv18284992 | duplication | OSC0278 | SNP array | Probe signal intensity | 5 |
| nssv18322586 | duplication | OSC0130 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283232 | Remapped | Perfect | NC_000010.11:g.(?_ 46549659)_(4658197 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,549,659 | 46,581,976 |
| nssv18283610 | Remapped | Perfect | NC_000010.11:g.(?_ 46549659)_(4658197 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,549,659 | 46,581,976 |
| nssv18283989 | Remapped | Perfect | NC_000010.11:g.(?_ 46549659)_(4658197 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,549,659 | 46,581,976 |
| nssv18284992 | Remapped | Perfect | NC_000010.11:g.(?_ 46549659)_(4658197 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,549,659 | 46,581,976 |
| nssv18322586 | Remapped | Perfect | NC_000010.11:g.(?_ 46549659)_(4658197 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,549,659 | 46,581,976 |
| nssv18283232 | Submitted genomic | NC_000010.10:g.(?_ 46967641)_(4699995 8_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,967,641 | 46,999,958 | ||
| nssv18283610 | Submitted genomic | NC_000010.10:g.(?_ 46967641)_(4699995 8_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,967,641 | 46,999,958 | ||
| nssv18283989 | Submitted genomic | NC_000010.10:g.(?_ 46967641)_(4699995 8_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,967,641 | 46,999,958 | ||
| nssv18284992 | Submitted genomic | NC_000010.10:g.(?_ 46967641)_(4699995 8_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,967,641 | 46,999,958 | ||
| nssv18322586 | Submitted genomic | NC_000010.10:g.(?_ 46967641)_(4699995 8_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,967,641 | 46,999,958 |