nsv4729338
- 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:2,307,597
- Description:GRCh37/hg19 8q11.23(chr8:52605905-54913501)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: 5914 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 5914 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729338 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 51,693,345 | 54,000,941 |
| nsv4729338 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 52,605,905 | 54,913,501 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16253932 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258408.1, VCV000979232.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253932 | Remapped | Perfect | NC_000008.11:g.(?_ 51693345)_(5400094 1_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 51,693,345 | 54,000,941 |
| nssv16253932 | Submitted genomic | NC_000008.10:g.(?_ 52605905)_(5491350 1_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 52,605,905 | 54,913,501 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16253932 | GRCh37: NC_000008.10:g.(?_52605905)_(54913501_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258408.1, VCV000979232.1 | 3 |