nsv4348837
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,096,404
- Description:GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) 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: 44542 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 44388 SVs from 125 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4348837 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 101,229,452 | 114,325,855 |
| nsv4348837 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 101,881,803 | 115,091,330 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605985 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767821.1, VCV000625813.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605985 | Remapped | Good | NC_000013.11:g.(?_ 101229452)_(114325 855_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 101,229,452 | 114,325,855 |
| nssv15605985 | Submitted genomic | NC_000013.10:g.(?_ 101881803)_(115091 330_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 101,881,803 | 115,091,330 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605985 | GRCh37: NC_000013.10:g.(?_101881803)_(115091330_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767821.1, VCV000625813.1 |