nsv3923144
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:99,316
- Description:NC_000013.11:g.94252984_94352299del99316insCTA
AND Autosomal recessive omodysplasia - Publication(s):Campos-Xavier et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 263 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3923144 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 94,252,984 | 94,352,299 |
| nsv3923144 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 94,905,238 | 95,004,553 |
| nsv3923144 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 93,703,239 | 93,802,554 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15120136 | delins | Multiple | Multiple | Autosomal recessive omodysplasia; OMODYSPLASIA 1; OMOD1; Omodysplasia; Omodysplasia 1 | Pathogenic | ClinVar | RCV000005890.3, VCV000005551.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15120136 | Submitted genomic | NC_000013.11:g.942 52984_94352299deli nsCTA | GRCh38 (hg38) | NC_000013.11 | Chr13 | 94,252,984 | 94,352,299 |
| nssv15120136 | Submitted genomic | NC_000013.10:g.949 05238_95004553deli nsCTA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 94,905,238 | 95,004,553 |
| nssv15120136 | Submitted genomic | NC_000013.9:g.9370 3239_93802554delin sCTA | NCBI36 (hg18) | NC_000013.9 | Chr13 | 93,703,239 | 93,802,554 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15120136 | GRCh37: NC_000013.10:g.94905238_95004553delinsCTA, GRCh38: NC_000013.11:g.94252984_94352299delinsCTA, NCBI36: NC_000013.9:g.93703239_93802554delinsCTA | delins | germline | Autosomal recessive omodysplasia; OMODYSPLASIA 1; OMOD1; Omodysplasia; Omodysplasia 1 | Pathogenic | ClinVar | RCV000005890.3, VCV000005551.1 |