nsv4729066
- 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:808,662
- Description:GRCh37/hg19 5p13.2(chr5:33945587-34754248)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: 2199 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2199 SVs from 91 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4729066 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 33,945,482 | 34,754,143 |
nsv4729066 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 33,945,587 | 34,754,248 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16254972 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258679.1, VCV000979503.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16254972 | Remapped | Perfect | NC_000005.10:g.(?_ 33945482)_(3475414 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 33,945,482 | 34,754,143 |
nssv16254972 | Submitted genomic | NC_000005.9:g.(?_3 3945587)_(34754248 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 33,945,587 | 34,754,248 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16254972 | GRCh37: NC_000005.9:g.(?_33945587)_(34754248_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258679.1, VCV000979503.1 | 3 |