nsv3895522
- 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:10,621,583
- Description:GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)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: 24875 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 24877 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 6848 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895522 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 53,627,272 | 64,248,854 |
| nsv3895522 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 54,092,945 | 64,714,537 |
| nsv3895522 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 53,865,533 | 64,487,125 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145932 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139470.4, VCV000150647.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145932 | Submitted genomic | NC_000001.11:g.(?_ 53627272)_(6424885 4_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 53,627,272 | 64,248,854 |
| nssv15145932 | Submitted genomic | NC_000001.10:g.(?_ 54092945)_(6471453 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 54,092,945 | 64,714,537 |
| nssv15145932 | Submitted genomic | NC_000001.9:g.(?_5 3865533)_(64487125 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 53,865,533 | 64,487,125 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145932 | GRCh37: NC_000001.10:g.(?_54092945)_(64714537_?)del, GRCh38: NC_000001.11:g.(?_53627272)_(64248854_?)del, NCBI36: NC_000001.9:g.(?_53865533)_(64487125_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139470.4, VCV000150647.2 | 1 |