nsv3895493
- 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:5,613,462
- Description:GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)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: 18058 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 18392 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 4936 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895493 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 10,809,039 | 16,422,500 |
| nsv3895493 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 10,869,096 | 16,748,995 |
| nsv3895493 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 10,791,683 | 16,621,582 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146553 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053765.4, VCV000059894.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146553 | Submitted genomic | NC_000001.11:g.(?_ 10809039)_(1642250 0_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 10,809,039 | 16,422,500 |
| nssv15146553 | Submitted genomic | NC_000001.10:g.(?_ 10869096)_(1674899 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 10,869,096 | 16,748,995 |
| nssv15146553 | Submitted genomic | NC_000001.9:g.(?_1 0791683)_(16621582 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,791,683 | 16,621,582 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146553 | GRCh37: NC_000001.10:g.(?_10869096)_(16748995_?)del, GRCh38: NC_000001.11:g.(?_10809039)_(16422500_?)del, NCBI36: NC_000001.9:g.(?_10791683)_(16621582_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053765.4, VCV000059894.1 | 1 |