nsv6627475
- 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:11,102
- 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: 136 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 281 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627475 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 51,302 | 62,403 |
| nsv6627475 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,524,963 | 42,536,064 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18306613 | Remapped | Perfect | NT_187682.1:g.(?_5 1302)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 51,302 | 62,403 |
| nssv18312023 | Remapped | Perfect | NT_187682.1:g.(?_5 1302)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 51,302 | 62,403 |
| nssv18306613 | Submitted genomic | NC_000022.10:g.(?_ 42524963)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,524,963 | 42,536,064 | ||
| nssv18312023 | Submitted genomic | NC_000022.10:g.(?_ 42524963)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,524,963 | 42,536,064 |