nsv3893126
- 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:12,362,388
- Description:GRCh38/hg38 1q43-44(chr1:236556082-248918469)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: 41419 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 41345 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 11178 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3893126 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 236,556,082 | 248,918,469 |
| nsv3893126 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 236,719,382 | 249,212,668 |
| nsv3893126 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 234,786,005 | 247,179,291 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148823 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137554.6, VCV000148480.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148823 | Submitted genomic | NC_000001.11:g.(?_ 236556082)_(248918 469_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 236,556,082 | 248,918,469 |
| nssv15148823 | Submitted genomic | NC_000001.10:g.(?_ 236719382)_(249212 668_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 236,719,382 | 249,212,668 |
| nssv15148823 | Submitted genomic | NC_000001.9:g.(?_2 34786005)_(2471792 91_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 234,786,005 | 247,179,291 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148823 | GRCh37: NC_000001.10:g.(?_236719382)_(249212668_?)del, GRCh38: NC_000001.11:g.(?_236556082)_(248918469_?)del, NCBI36: NC_000001.9:g.(?_234786005)_(247179291_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000137554.6, VCV000148480.2 | 1 |