nsv4456997
- 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:20,586,404
- Description:GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)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: 63552 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 63289 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456997 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 124,483,982 | 145,070,385 |
| nsv4456997 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 125,496,223 | 146,295,771 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774288 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000845705.2, VCV000684997.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774288 | Remapped | Good | NC_000008.11:g.(?_ 124483982)_(145070 385_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 124,483,982 | 145,070,385 |
| nssv15774288 | Submitted genomic | NC_000008.10:g.(?_ 125496223)_(146295 771_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 125,496,223 | 146,295,771 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774288 | GRCh37: NC_000008.10:g.(?_125496223)_(146295771_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000845705.2, VCV000684997.2 | 3 |