nsv4675200
- 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:3,170,382
- Description:GRCh37/hg19 7q11.23(chr7:72621722-76007380)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: 9329 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 9176 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675200 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 73,207,682 | 76,378,063 |
| nsv4675200 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 72,621,722 | 76,007,380 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208139 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005967.1, VCV000814990.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208139 | Remapped | Pass | NC_000007.14:g.(?_ 73207682)_(7637806 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 73,207,682 | 76,378,063 |
| nssv16208139 | Submitted genomic | NC_000007.13:g.(?_ 72621722)_(7600738 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 72,621,722 | 76,007,380 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208139 | GRCh37: NC_000007.13:g.(?_72621722)_(76007380_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005967.1, VCV000814990.1 | 1 |