nsv6290004
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:86,550,997
- Description:NC_000009.11:g.12246100_101559378inv AND multiple conditions
- Publication(s):Sismani et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 170627 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 170919 SVs from 143 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290004 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 12,246,100 | 98,797,096 |
| nsv6290004 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 12,246,100 | 101,559,378 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955515 | inversion | Multiple | Multiple | Abnormal chromosome morphology; Abnormal chromosome morphology; Recurrent spontaneous abortion; Recurrent spontaneous abortion | Likely pathogenic | ClinVar | RCV000999471.2, VCV000694460.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955515 | Remapped | Good | NC_000009.12:g.122 46100_98797096inv | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 12,246,100 | 98,797,096 |
| nssv17955515 | Submitted genomic | NC_000009.11:g.122 46100_101559378inv | GRCh37 (hg19) | NC_000009.11 | Chr9 | 12,246,100 | 101,559,378 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955515 | GRCh37: NC_000009.11:g.12246100_101559378inv | inversion | germline | Abnormal chromosome morphology; Abnormal chromosome morphology; Recurrent spontaneous abortion; Recurrent spontaneous abortion | Likely pathogenic | ClinVar | RCV000999471.2, VCV000694460.2 |