nsv3882264
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:40,413,906
- Description:NC_000013.11:g.46968080_87381985del40413906 AND Chromosome 13q14 deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 107900 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 107964 SVs from 140 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3882264 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 46,968,080 | 87,381,985 | ||
| nsv3882264 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 47,542,215 | 88,034,240 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15161906 | deletion | Multiple | Multiple | CHROMOSOME 13q14 DELETION SYNDROME; Chromosome 13q14 deletion syndrome | Pathogenic | ClinVar | RCV000721955.2, VCV000545122.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161906 | Submitted genomic | NC_000013.11:g.469 68080_87381985del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 46,968,080 | 87,381,985 | ||
| nssv15161906 | Remapped | Good | NC_000013.10:g.475 42215_88034240del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 47,542,215 | 88,034,240 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15161906 | GRCh38: NC_000013.11:g.46968080_87381985del | deletion | de novo | CHROMOSOME 13q14 DELETION SYNDROME; Chromosome 13q14 deletion syndrome | Pathogenic | ClinVar | RCV000721955.2, VCV000545122.1 |