nsv5564522
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,405
- Description:
NM_005431.2(XRCC2):c.122-1899_627inv AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 176 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5564522 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 152,648,858 | 152,651,262 |
| nsv5564522 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 152,345,943 | 152,348,347 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059321 | inversion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001361755.4, VCV001053415.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17059321 | Submitted genomic | NC_000007.14:g.152 648858_152651262in v2405 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 152,648,858 | 152,651,262 |
| nssv17059321 | Submitted genomic | NC_000007.13:g.152 345943_152348347in v2405 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 152,345,943 | 152,348,347 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059321 | GRCh37: NC_000007.13:g.152345943_152348347inv2405, GRCh38: NC_000007.14:g.152648858_152651262inv2405 | inversion | germline | not provided | Uncertain significance | ClinVar | RCV001361755.4, VCV001053415.4 |