nsv3895257
- 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:2,592,671
- Description:GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)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: 7244 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 7225 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1373 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895257 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 30,766,758 | 33,359,428 |
| nsv3895257 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 31,239,605 | 33,825,029 |
| nsv3895257 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 31,012,192 | 33,597,616 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147192 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053802.6, VCV000059931.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147192 | Submitted genomic | NC_000001.11:g.(?_ 30766758)_(3335942 8_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 30,766,758 | 33,359,428 |
| nssv15147192 | Submitted genomic | NC_000001.10:g.(?_ 31239605)_(3382502 9_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 31,239,605 | 33,825,029 |
| nssv15147192 | Submitted genomic | NC_000001.9:g.(?_3 1012192)_(33597616 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 31,012,192 | 33,597,616 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147192 | GRCh37: NC_000001.10:g.(?_31239605)_(33825029_?)del, GRCh38: NC_000001.11:g.(?_30766758)_(33359428_?)del, NCBI36: NC_000001.9:g.(?_31012192)_(33597616_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053802.6, VCV000059931.1 | 1 |