nsv3899050
- 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:4,954,130
- Description:GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)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: 14149 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 14149 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 4078 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 |
|---|---|---|---|---|---|---|---|
| nsv3899050 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 37,000,557 | 41,954,686 |
| nsv3899050 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 37,227,700 | 42,181,826 |
| nsv3899050 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 37,081,204 | 42,035,330 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136795 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139443.4, VCV000150617.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136795 | Submitted genomic | NC_000002.12:g.(?_ 37000557)_(4195468 6_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 37,000,557 | 41,954,686 |
| nssv15136795 | Submitted genomic | NC_000002.11:g.(?_ 37227700)_(4218182 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 37,227,700 | 42,181,826 |
| nssv15136795 | Submitted genomic | NC_000002.10:g.(?_ 37081204)_(4203533 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 37,081,204 | 42,035,330 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136795 | GRCh37: NC_000002.11:g.(?_37227700)_(42181826_?)del, GRCh38: NC_000002.12:g.(?_37000557)_(41954686_?)del, NCBI36: NC_000002.10:g.(?_37081204)_(42035330_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139443.4, VCV000150617.2 | 1 |