nsv7093585
- 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_014727.3(KMT2B):c.4480_4481insGGGCGCCACGGCT
CTAGTCTGGGCCTTCTCAGTACTTGCCCAAAATAGAAACGCTTTCTGAAAACTAATAA
CNNNNNNNNNNTCTGGGCCACAAGACCCAACACCTTAAACCAGATGTCAAAGAAAGAA
GCCACGGGAAGTAAACACTTTGCTTATGA (p.Lys1494delinsArgAlaProArgLeuTer) 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: 107 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093585 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 35,727,964 | 35,727,964 |
| nsv7093585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 36,218,865 | 36,218,865 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18785980 | insertion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003059234.1, VCV002120147.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18785980 | Submitted genomic | NC_000019.10:g.357 27964_35727965ins1 58 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 35,727,964 | 35,727,964 |
| nssv18785980 | Submitted genomic | NC_000019.9:g.3621 8865_36218866ins15 8 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 36,218,865 | 36,218,865 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18785980 | GRCh37: NC_000019.9:g.36218865_36218866ins158, GRCh38: NC_000019.10:g.35727964_35727965ins158 | insertion | germline | not provided | Pathogenic | ClinVar | RCV003059234.1, VCV002120147.1 |