nsv3908546
- 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:9,501,127
- Description:GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)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: 30830 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 31164 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 8280 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908546 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 6,554,885 | 16,056,011 |
| nsv3908546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 6,614,945 | 16,382,506 |
| nsv3908546 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 6,537,532 | 16,255,093 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148982 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142906.5, VCV000154839.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148982 | Submitted genomic | NC_000001.11:g.(?_ 6554885)_(16056011 _?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 6,554,885 | 16,056,011 |
| nssv15148982 | Submitted genomic | NC_000001.10:g.(?_ 6614945)_(16382506 _?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 6,614,945 | 16,382,506 |
| nssv15148982 | Submitted genomic | NC_000001.9:g.(?_6 537532)_(16255093_ ?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 6,537,532 | 16,255,093 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148982 | GRCh37: NC_000001.10:g.(?_6614945)_(16382506_?)dup, GRCh38: NC_000001.11:g.(?_6554885)_(16056011_?)dup, NCBI36: NC_000001.9:g.(?_6537532)_(16255093_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142906.5, VCV000154839.2 | 3 |