nsv4435891
- 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:29,042,555
- Description:GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 77414 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 77334 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4435891 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 209,914,933 | 238,957,487 |
| nsv4435891 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 210,779,657 | 239,879,183 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15755822 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000790568.1, VCV000638100.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755822 | Remapped | Good | NC_000002.12:g.(?_ 209914933)_(238957 487_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 209,914,933 | 238,957,487 |
| nssv15755822 | Submitted genomic | NC_000002.11:g.(?_ 210779657)_(239879 183_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 210,779,657 | 239,879,183 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15755822 | GRCh37: NC_000002.11:g.(?_210779657)_(239879183_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000790568.1, VCV000638100.1 | 3 |