nsv3895049
- 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:3,225,135
- Description:GRCh38/hg38 2q11.2(chr2:98411773-101636907)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: 6901 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 6901 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1789 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895049 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 98,411,773 | 101,636,907 |
| nsv3895049 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 99,028,236 | 102,253,369 |
| nsv3895049 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 98,394,668 | 101,619,801 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136969 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000139206.4, VCV000150339.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136969 | Submitted genomic | NC_000002.12:g.(?_ 98411773)_(1016369 07_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 98,411,773 | 101,636,907 |
| nssv15136969 | Submitted genomic | NC_000002.11:g.(?_ 99028236)_(1022533 69_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 99,028,236 | 102,253,369 |
| nssv15136969 | Submitted genomic | NC_000002.10:g.(?_ 98394668)_(1016198 01_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 98,394,668 | 101,619,801 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136969 | GRCh37: NC_000002.11:g.(?_99028236)_(102253369_?)del, GRCh38: NC_000002.12:g.(?_98411773)_(101636907_?)del, NCBI36: NC_000002.10:g.(?_98394668)_(101619801_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000139206.4, VCV000150339.2 | 1 |