nsv3890307
- 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:157,887
- Description:GRCh38/hg38 1q23.2(chr1:160059626-160217512)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: 424 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3890307 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 160,059,626 | 160,217,512 |
| nsv3890307 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 160,029,416 | 160,187,302 |
| nsv3890307 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 158,296,040 | 158,453,926 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135077 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136816.4, VCV000147654.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135077 | Submitted genomic | NC_000001.11:g.(?_ 160059626)_(160217 512_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 160,059,626 | 160,217,512 |
| nssv15135077 | Submitted genomic | NC_000001.10:g.(?_ 160029416)_(160187 302_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 160,029,416 | 160,187,302 |
| nssv15135077 | Submitted genomic | NC_000001.9:g.(?_1 58296040)_(1584539 26_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 158,296,040 | 158,453,926 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135077 | GRCh37: NC_000001.10:g.(?_160029416)_(160187302_?)dup, GRCh38: NC_000001.11:g.(?_160059626)_(160217512_?)dup, NCBI36: NC_000001.9:g.(?_158296040)_(158453926_?)dup | copy number gain | tested-inconclusive | See cases | Benign | ClinVar | RCV000136816.4, VCV000147654.2 | 3 |