nsv6631240
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,946
- 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: 1022 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1023 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,865,256 | 29,888,201 |
| nsv6631240 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,833,033 | 29,855,978 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283323 | duplication | OSC2393 | SNP array | Probe signal intensity | 7 |
| nssv18288728 | duplication | OSC3151 | SNP array | Probe signal intensity | nssv18288729, nssv18287846, nssv18287845 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283323 | Remapped | Perfect | NC_000006.12:g.(?_ 29865256)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,865,256 | 29,888,201 |
| nssv18288728 | Remapped | Perfect | NC_000006.12:g.(?_ 29865256)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,865,256 | 29,888,201 |
| nssv18283323 | Submitted genomic | NC_000006.11:g.(?_ 29833033)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,833,033 | 29,855,978 | ||
| nssv18288728 | Submitted genomic | NC_000006.11:g.(?_ 29833033)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,833,033 | 29,855,978 |