nsv4676044
- 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:4,117,897
- Description:GRCh37/hg19 7q33-34(chr7:135677938-139810886)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: 10745 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 10735 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676044 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 135,993,190 | 140,111,086 |
| nsv4676044 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 135,677,938 | 139,810,886 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208157 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006019.1, VCV000815042.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208157 | Remapped | Good | NC_000007.14:g.(?_ 135993190)_(140111 086_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 135,993,190 | 140,111,086 |
| nssv16208157 | Submitted genomic | NC_000007.13:g.(?_ 135677938)_(139810 886_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 135,677,938 | 139,810,886 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208157 | GRCh37: NC_000007.13:g.(?_135677938)_(139810886_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006019.1, VCV000815042.1 | 1 |