nsv3898281
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,315,992
- Description:GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)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: 3344 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 3011 SVs from 106 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3898281 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 147,036,093 | 148,352,084 |
| nsv3898281 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 146,507,649 | 147,824,212 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136390 | copy number gain | Multiple | Multiple | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000138851.5, VCV000149909.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136390 | Submitted genomic | NC_000001.11:g.(?_ 147036093)_(148352 084_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,036,093 | 148,352,084 |
| nssv15136390 | Submitted genomic | NC_000001.10:g.(?_ 146507649)_(147824 212_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,507,649 | 147,824,212 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136390 | GRCh37: NC_000001.10:g.(?_146507649)_(147824212_?)dup, GRCh38: NC_000001.11:g.(?_147036093)_(148352084_?)dup | copy number gain | not provided | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000138851.5, VCV000149909.2 | 3 |