nsv3920315
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:28,523
- Description:GRCh38/hg38 5q32(chr5:150368321-150396843)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 93 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920315 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 150,368,321 | 150,396,843 |
| nsv3920315 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 149,747,884 | 149,776,406 |
| nsv3920315 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 149,728,077 | 149,756,599 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120569 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051864.4, VCV000058119.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120569 | Submitted genomic | NC_000005.10:g.(?_ 150368321)_(150396 843_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 150,368,321 | 150,396,843 |
| nssv15120569 | Submitted genomic | NC_000005.9:g.(?_1 49747884)_(1497764 06_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 149,747,884 | 149,776,406 |
| nssv15120569 | Submitted genomic | NC_000005.8:g.(?_1 49728077)_(1497565 99_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 149,728,077 | 149,756,599 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120569 | GRCh37: NC_000005.9:g.(?_149747884)_(149776406_?)dup, GRCh38: NC_000005.10:g.(?_150368321)_(150396843_?)dup, NCBI36: NC_000005.8:g.(?_149728077)_(149756599_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051864.4, VCV000058119.1 | 3 |