nsv3906265
- 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:817,923
- Description:GRCh38/hg38 1p36.22-36.21(chr1:12293275-13111197)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: 3402 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3645 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 1093 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906265 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 12,293,275 | 13,111,197 |
| nsv3906265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,353,332 | 13,178,669 |
| nsv3906265 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 12,275,919 | 13,101,256 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147293 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000135466.4, VCV000146143.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147293 | Submitted genomic | NC_000001.11:g.(?_ 12293275)_(1311119 7_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 12,293,275 | 13,111,197 |
| nssv15147293 | Submitted genomic | NC_000001.10:g.(?_ 12353332)_(1317866 9_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,353,332 | 13,178,669 |
| nssv15147293 | Submitted genomic | NC_000001.9:g.(?_1 2275919)_(13101256 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 12,275,919 | 13,101,256 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147293 | GRCh37: NC_000001.10:g.(?_12353332)_(13178669_?)dup, GRCh38: NC_000001.11:g.(?_12293275)_(13111197_?)dup, NCBI36: NC_000001.9:g.(?_12275919)_(13101256_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000135466.4, VCV000146143.2 | 3 |