nsv7093469
- 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_020810.3(TRMT5):c.323_324insGGCCGGGCGCGGTGG
CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANN
NNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAATAGTCAGTAA (p.Lys108_Leu109insAlaGlyArgGlyGlySerArgLeuTer) 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: 90 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093469 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 60,979,574 | 60,979,574 |
| nsv7093469 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 61,446,292 | 61,446,292 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786471 | insertion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002806946.1, VCV001996690.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786471 | Submitted genomic | NC_000014.9:g.6097 9574_60979575ins11 8 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 60,979,574 | 60,979,574 |
| nssv18786471 | Submitted genomic | NC_000014.8:g.6144 6292_61446293ins11 8 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 61,446,292 | 61,446,292 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786471 | GRCh37: NC_000014.8:g.61446292_61446293ins118, GRCh38: NC_000014.9:g.60979574_60979575ins118 | insertion | germline | not provided | Uncertain significance | ClinVar | RCV002806946.1, VCV001996690.1 |