nsv3885523
- 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:25,348,552
- Description:GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)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: 69686 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 69688 SVs from 139 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885523 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 155,917,792 | 181,266,343 |
| nsv3885523 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 155,344,802 | 180,693,344 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15166637 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000745284.2, VCV000608648.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15166637 | Remapped | Perfect | NC_000005.10:g.(?_ 155917792)_(181266 343_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 155,917,792 | 181,266,343 |
| nssv15166637 | Submitted genomic | NC_000005.9:g.(?_1 55344802)_(1806933 44_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,344,802 | 180,693,344 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15166637 | GRCh37: NC_000005.9:g.(?_155344802)_(180693344_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000745284.2, VCV000608648.2 | 3 |