nsv3903895
- 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:1,297,618
- Description:GRCh38/hg38 1p36.12(chr1:21399130-22696747)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: 4245 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 4245 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1161 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3903895 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 21,399,130 | 22,696,747 |
| nsv3903895 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 21,725,623 | 23,023,240 |
| nsv3903895 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 21,598,210 | 22,895,827 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136024 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138071.4, VCV000149011.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136024 | Submitted genomic | NC_000001.11:g.(?_ 21399130)_(2269674 7_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 21,399,130 | 22,696,747 |
| nssv15136024 | Submitted genomic | NC_000001.10:g.(?_ 21725623)_(2302324 0_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 21,725,623 | 23,023,240 |
| nssv15136024 | Submitted genomic | NC_000001.9:g.(?_2 1598210)_(22895827 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 21,598,210 | 22,895,827 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136024 | GRCh37: NC_000001.10:g.(?_21725623)_(23023240_?)del, GRCh38: NC_000001.11:g.(?_21399130)_(22696747_?)del, NCBI36: NC_000001.9:g.(?_21598210)_(22895827_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000138071.4, VCV000149011.2 | 1 |