nsv6630394
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:200,252
- 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: 654 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 654 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630394 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 28,942,845 | 29,143,096 |
| nsv6630394 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 1 | 115,479 |
| nsv6630394 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 28,942,952 | 29,143,203 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18321527 | deletion | OSC1198 | SNP array | Probe signal intensity | nssv18321793, nssv18322076, nssv18322077 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18321527 | Remapped | Pass | NW_003571036.1:g.( ?_1)_(115479_?)del | GRCh38.p12 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 1 | 115,479 |
| nssv18321527 | Remapped | Perfect | NC_000005.10:g.(?_ 28942845)_(2914309 6_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 28,942,845 | 29,143,096 |
| nssv18321527 | Submitted genomic | NC_000005.9:g.(?_2 8942952)_(29143203 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 28,942,952 | 29,143,203 |