nsv4675585
- 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:218,362
- Description:GRCh37/hg19 5q12.3(chr5:64775928-64994289)x1 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: 694 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 694 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675585 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 65,480,101 | 65,698,462 |
| nsv4675585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 64,775,928 | 64,994,289 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208022 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005682.1, VCV000814692.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208022 | Remapped | Perfect | NC_000005.10:g.(?_ 65480101)_(6569846 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 65,480,101 | 65,698,462 |
| nssv16208022 | Submitted genomic | NC_000005.9:g.(?_6 4775928)_(64994289 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 64,775,928 | 64,994,289 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208022 | GRCh37: NC_000005.9:g.(?_64775928)_(64994289_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001005682.1, VCV000814692.1 | 1 |