nsv6632504
- 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:263,399
- 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: 2170 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1061 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 2070 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632504 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 143,465,772 | 143,729,170 |
| nsv6632504 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187571.1 | Chr8|NT_18 7571.1 | 1 | 206,217 |
| nsv6632504 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 144,547,942 | 144,811,340 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18296116 | deletion | OSC4465 | SNP array | Probe signal intensity | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18296116 | Remapped | Pass | NT_187571.1:g.(?_1 )_(206217_?)del | GRCh38.p12 | Second Pass | NT_187571.1 | Chr8|NT_18 7571.1 | 1 | 206,217 |
| nssv18296116 | Remapped | Perfect | NC_000008.11:g.(?_ 143465772)_(143729 170_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 143,465,772 | 143,729,170 |
| nssv18296116 | Submitted genomic | NC_000008.10:g.(?_ 144547942)_(144811 340_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 144,547,942 | 144,811,340 |