nsv3905391
- 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:787,780
- Description:GRCh38/hg38 1q32.1(chr1:201226425-202014204)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: 1784 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1784 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 481 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905391 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 201,226,425 | 202,014,204 |
| nsv3905391 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 201,195,553 | 201,983,332 |
| nsv3905391 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 199,462,176 | 200,249,955 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146260 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051558.4, VCV000057818.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146260 | Submitted genomic | NC_000001.11:g.(?_ 201226425)_(202014 204_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 201,226,425 | 202,014,204 |
| nssv15146260 | Submitted genomic | NC_000001.10:g.(?_ 201195553)_(201983 332_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 201,195,553 | 201,983,332 |
| nssv15146260 | Submitted genomic | NC_000001.9:g.(?_1 99462176)_(2002499 55_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 199,462,176 | 200,249,955 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146260 | GRCh37: NC_000001.10:g.(?_201195553)_(201983332_?)dup, GRCh38: NC_000001.11:g.(?_201226425)_(202014204_?)dup, NCBI36: NC_000001.9:g.(?_199462176)_(200249955_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000051558.4, VCV000057818.1 | 3 |