nsv3905989
- 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:12,209,163
- Description:GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)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: 28443 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 28443 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 7475 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905989 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 76,419,302 | 88,628,464 |
| nsv3905989 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 76,884,987 | 89,094,147 |
| nsv3905989 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 76,657,575 | 88,866,735 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136913 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138957.4, VCV000150045.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136913 | Submitted genomic | NC_000001.11:g.(?_ 76419302)_(8862846 4_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 76,419,302 | 88,628,464 |
| nssv15136913 | Submitted genomic | NC_000001.10:g.(?_ 76884987)_(8909414 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 76,884,987 | 89,094,147 |
| nssv15136913 | Submitted genomic | NC_000001.9:g.(?_7 6657575)_(88866735 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 76,657,575 | 88,866,735 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136913 | GRCh37: NC_000001.10:g.(?_76884987)_(89094147_?)del, GRCh38: NC_000001.11:g.(?_76419302)_(88628464_?)del, NCBI36: NC_000001.9:g.(?_76657575)_(88866735_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000138957.4, VCV000150045.2 | 1 |