nsv3903468
- 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:17,098,378
- Description:GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)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: 40014 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 40017 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 10654 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3903468 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 59,632,500 | 76,730,877 |
| nsv3903468 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 60,098,172 | 77,196,562 |
| nsv3903468 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 59,870,760 | 76,969,150 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147194 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053842.6, VCV000059971.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147194 | Submitted genomic | NC_000001.11:g.(?_ 59632500)_(7673087 7_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 59,632,500 | 76,730,877 |
| nssv15147194 | Submitted genomic | NC_000001.10:g.(?_ 60098172)_(7719656 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,098,172 | 77,196,562 |
| nssv15147194 | Submitted genomic | NC_000001.9:g.(?_5 9870760)_(76969150 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 59,870,760 | 76,969,150 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147194 | GRCh37: NC_000001.10:g.(?_60098172)_(77196562_?)del, GRCh38: NC_000001.11:g.(?_59632500)_(76730877_?)del, NCBI36: NC_000001.9:g.(?_59870760)_(76969150_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053842.6, VCV000059971.1 | 1 |