nsv3924400
- 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:24,444,294
- Description:GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)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: 67641 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 67642 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 16519 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 |
|---|---|---|---|---|---|---|---|
| nsv3924400 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 156,825,512 | 181,269,805 |
| nsv3924400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 156,252,523 | 180,696,806 |
| nsv3924400 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 156,185,101 | 180,629,412 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131911 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133847.5, VCV000144365.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131911 | Submitted genomic | NC_000005.10:g.(?_ 156825512)_(181269 805_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 156,825,512 | 181,269,805 |
| nssv15131911 | Submitted genomic | NC_000005.9:g.(?_1 56252523)_(1806968 06_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 156,252,523 | 180,696,806 |
| nssv15131911 | Submitted genomic | NC_000005.8:g.(?_1 56185101)_(1806294 12_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 156,185,101 | 180,629,412 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131911 | GRCh37: NC_000005.9:g.(?_156252523)_(180696806_?)dup, GRCh38: NC_000005.10:g.(?_156825512)_(181269805_?)dup, NCBI36: NC_000005.8:g.(?_156185101)_(180629412_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133847.5, VCV000144365.2 | 3 |