nsv4676347
- 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:1,446,759
- Description:GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)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: 5623 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 5624 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676347 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 49,966,473 | 51,413,231 |
| nsv4676347 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 50,469,730 | 51,916,485 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207403 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007055.1, VCV000816089.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207403 | Remapped | Perfect | NC_000019.10:g.(?_ 49966473)_(5141323 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,966,473 | 51,413,231 |
| nssv16207403 | Submitted genomic | NC_000019.9:g.(?_5 0469730)_(51916485 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 50,469,730 | 51,916,485 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207403 | GRCh37: NC_000019.9:g.(?_50469730)_(51916485_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001007055.1, VCV000816089.1 | 3 |