nsv3894887
- 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:145,199
- Description:GRCh38/hg38 1q21.3(chr1:153752331-153897529)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: 470 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 479 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3894887 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 153,752,331 | 153,897,529 |
| nsv3894887 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 153,724,807 | 153,870,005 |
| nsv3894887 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 151,991,431 | 152,136,629 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137144 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137462.5, VCV000148388.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137144 | Submitted genomic | NC_000001.11:g.(?_ 153752331)_(153897 529_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 153,752,331 | 153,897,529 |
| nssv15137144 | Submitted genomic | NC_000001.10:g.(?_ 153724807)_(153870 005_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 153,724,807 | 153,870,005 |
| nssv15137144 | Submitted genomic | NC_000001.9:g.(?_1 51991431)_(1521366 29_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 151,991,431 | 152,136,629 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137144 | GRCh37: NC_000001.10:g.(?_153724807)_(153870005_?)del, GRCh38: NC_000001.11:g.(?_153752331)_(153897529_?)del, NCBI36: NC_000001.9:g.(?_151991431)_(152136629_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000137462.5, VCV000148388.2 | 1 |