nsv6627464
- 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:14,440
- 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: 153 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 307 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627464 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,523 | 63,962 |
| nsv6627464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,523,184 | 42,537,623 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18312367 | duplication | OSC7558 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18312367 | Remapped | Perfect | NT_187682.1:g.(?_4 9523)_(63962_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,523 | 63,962 |
| nssv18312367 | Submitted genomic | NC_000022.10:g.(?_ 42523184)_(4253762 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,184 | 42,537,623 |