nsv3896927
- 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:24,172,414
- Description:GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)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: 56613 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 56619 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 15126 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3896927 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 52,595,352 | 76,767,765 |
| nsv3896927 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 53,061,024 | 77,233,450 |
| nsv3896927 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 52,833,612 | 77,006,038 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146385 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051822.6, VCV000058079.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146385 | Submitted genomic | NC_000001.11:g.(?_ 52595352)_(7676776 5_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 52,595,352 | 76,767,765 |
| nssv15146385 | Submitted genomic | NC_000001.10:g.(?_ 53061024)_(7723345 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 53,061,024 | 77,233,450 |
| nssv15146385 | Submitted genomic | NC_000001.9:g.(?_5 2833612)_(77006038 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 52,833,612 | 77,006,038 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146385 | GRCh37: NC_000001.10:g.(?_53061024)_(77233450_?)dup, GRCh38: NC_000001.11:g.(?_52595352)_(76767765_?)dup, NCBI36: NC_000001.9:g.(?_52833612)_(77006038_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051822.6, VCV000058079.1 | 3 |