nsv4675977
- 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:1,092,658
- Description:GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4 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: 4194 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 4237 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675977 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,691,446 | 21,784,103 |
| nsv4675977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,159,605 | 22,252,320 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207194 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001006607.1, VCV000815630.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207194 | Remapped | Good | NC_000014.9:g.(?_2 0691446)_(21784103 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,691,446 | 21,784,103 |
| nssv16207194 | Submitted genomic | NC_000014.8:g.(?_2 1159605)_(22252320 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,159,605 | 22,252,320 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207194 | GRCh37: NC_000014.8:g.(?_21159605)_(22252320_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001006607.1, VCV000815630.1 | 4 |