nsv6636639
- 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:859,972
- Description:GRCh37/hg19 7q11.23(chr7:75091880-75951903)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: 3321 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3326 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636639 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 75,462,615 | 76,322,586 |
| nsv6636639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 75,091,880 | 75,951,903 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330935 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472796.1, VCV001807990.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330935 | Remapped | Good | NC_000007.14:g.(?_ 75462615)_(7632258 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,462,615 | 76,322,586 |
| nssv18330935 | Submitted genomic | NC_000007.13:g.(?_ 75091880)_(7595190 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 75,091,880 | 75,951,903 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330935 | GRCh37: NC_000007.13:g.(?_75091880)_(75951903_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472796.1, VCV001807990.1 | 3 |