nsv4457314
- 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:5,356,042
- Description:GRCh37/hg19 7q34-35(chr7:141751875-147105208)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: 17317 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 17173 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457314 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,052,075 | 147,408,116 |
| nsv4457314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 141,751,875 | 147,105,208 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776128 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848670.2, VCV000687979.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776128 | Remapped | Good | NC_000007.14:g.(?_ 142052075)_(147408 116_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,052,075 | 147,408,116 |
| nssv15776128 | Submitted genomic | NC_000007.13:g.(?_ 141751875)_(147105 208_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,751,875 | 147,105,208 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776128 | GRCh37: NC_000007.13:g.(?_141751875)_(147105208_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848670.2, VCV000687979.2 | 3 |