nsv7093608
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:NM_001378457.1(DMXL2):c.1519_1520insGCGGAGCTTG
CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCCTG (p.Asp507fs) 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: 76 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093608 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 51,537,585 | 51,537,585 |
| nsv7093608 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 51,829,782 | 51,829,782 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786236 | insertion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003021561.1, VCV002099131.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786236 | Submitted genomic | NC_000015.10:g.515 37585_51537586ins1 13 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 51,537,585 | 51,537,585 |
| nssv18786236 | Submitted genomic | NC_000015.9:g.5182 9782_51829783ins11 3 | GRCh37 (hg19) | NC_000015.9 | Chr15 | 51,829,782 | 51,829,782 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786236 | GRCh37: NC_000015.9:g.51829782_51829783ins113, GRCh38: NC_000015.10:g.51537585_51537586ins113 | insertion | germline | not provided | Pathogenic | ClinVar | RCV003021561.1, VCV002099131.1 |