nsv3892078
- 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:1,386,337
- Description:GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1 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: 3894 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3894 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 984 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892078 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 19,548,795 | 20,935,131 |
| nsv3892078 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 19,875,289 | 21,261,624 |
| nsv3892078 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 19,747,876 | 21,134,211 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145884 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138079.4, VCV000149019.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145884 | Submitted genomic | NC_000001.11:g.(?_ 19548795)_(2093513 1_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 19,548,795 | 20,935,131 |
| nssv15145884 | Submitted genomic | NC_000001.10:g.(?_ 19875289)_(2126162 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 19,875,289 | 21,261,624 |
| nssv15145884 | Submitted genomic | NC_000001.9:g.(?_1 9747876)_(21134211 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 19,747,876 | 21,134,211 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145884 | GRCh37: NC_000001.10:g.(?_19875289)_(21261624_?)del, GRCh38: NC_000001.11:g.(?_19548795)_(20935131_?)del, NCBI36: NC_000001.9:g.(?_19747876)_(21134211_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000138079.4, VCV000149019.2 | 1 |