nsv3921182
- 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:31,557,560
- Description:GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)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: 84383 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 84379 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 20736 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921182 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 149,714,592 | 181,272,151 |
| nsv3921182 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 149,094,155 | 180,699,152 |
| nsv3921182 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 149,074,348 | 180,631,758 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147004 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051863.6, VCV000058118.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147004 | Submitted genomic | NC_000005.10:g.(?_ 149714592)_(181272 151_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 149,714,592 | 181,272,151 |
| nssv15147004 | Submitted genomic | NC_000005.9:g.(?_1 49094155)_(1806991 52_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 149,094,155 | 180,699,152 |
| nssv15147004 | Submitted genomic | NC_000005.8:g.(?_1 49074348)_(1806317 58_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 149,074,348 | 180,631,758 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147004 | GRCh37: NC_000005.9:g.(?_149094155)_(180699152_?)dup, GRCh38: NC_000005.10:g.(?_149714592)_(181272151_?)dup, NCBI36: NC_000005.8:g.(?_149074348)_(180631758_?)dup | copy number gain | paternal | See cases | Pathogenic | ClinVar | RCV000051863.6, VCV000058118.1 | 3 |