nsv4729578
- 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:441,168
- Description:GRCh37/hg19 8q13.3(chr8:71244655-71685822)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: 1195 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1195 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729578 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 70,332,420 | 70,773,587 |
| nsv4729578 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 71,244,655 | 71,685,822 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254773 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258414.1, VCV000979238.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254773 | Remapped | Perfect | NC_000008.11:g.(?_ 70332420)_(7077358 7_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 70,332,420 | 70,773,587 |
| nssv16254773 | Submitted genomic | NC_000008.10:g.(?_ 71244655)_(7168582 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 71,244,655 | 71,685,822 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254773 | GRCh37: NC_000008.10:g.(?_71244655)_(71685822_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258414.1, VCV000979238.1 | 3 |