nsv4728323
- 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:605,241
- Description:GRCh37/hg19 2p24.3(chr2:15621732-16226970)x3 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: 1452 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 1452 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 15,481,608 | 16,086,848 |
| nsv4728323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 15,621,732 | 16,226,970 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255223 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259157.1, VCV000979981.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255223 | Remapped | Perfect | NC_000002.12:g.(?_ 15481608)_(1608684 8_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 15,481,608 | 16,086,848 |
| nssv16255223 | Submitted genomic | NC_000002.11:g.(?_ 15621732)_(1622697 0_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 15,621,732 | 16,226,970 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255223 | GRCh37: NC_000002.11:g.(?_15621732)_(16226970_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001259157.1, VCV000979981.1 | 3 |