nsv3900459
- 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:30,412,929
- Description:GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)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: 73162 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 73176 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 19399 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900459 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 149,854,269 | 180,267,197 |
| nsv3900459 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 149,825,831 | 180,236,332 |
| nsv3900459 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 148,092,455 | 178,502,955 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148250 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143515.5, VCV000155448.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148250 | Submitted genomic | NC_000001.11:g.(?_ 149854269)_(180267 197_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 149,854,269 | 180,267,197 |
| nssv15148250 | Submitted genomic | NC_000001.10:g.(?_ 149825831)_(180236 332_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 149,825,831 | 180,236,332 |
| nssv15148250 | Submitted genomic | NC_000001.9:g.(?_1 48092455)_(1785029 55_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 148,092,455 | 178,502,955 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148250 | GRCh37: NC_000001.10:g.(?_149825831)_(180236332_?)dup, GRCh38: NC_000001.11:g.(?_149854269)_(180267197_?)dup, NCBI36: NC_000001.9:g.(?_148092455)_(178502955_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143515.5, VCV000155448.2 | 3 |