nsv3920656
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,771,925
- Description:NCBI36/hg18 2q24.3-31.1(chr2:164252567-169962907)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: 13040 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13040 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3617 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3920656 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 163,652,982 | 163,687,811 | 169,398,151 | 169,424,906 |
| nsv3920656 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 164,509,492 | 164,544,321 | 170,254,661 | 170,281,416 |
| nsv3920656 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 164,217,738 | 164,252,567 | 169,962,907 | 169,989,662 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15128015 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000451886.2, VCV000398866.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15128015 | Remapped | Perfect | NC_000002.12:g.(16 3652982_163687811) _(169398151_169424 906)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 163,652,982 | 163,687,811 | 169,398,151 | 169,424,906 |
| nssv15128015 | Remapped | Perfect | NC_000002.11:g.(16 4509492_164544321) _(170254661_170281 416)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 164,509,492 | 164,544,321 | 170,254,661 | 170,281,416 |
| nssv15128015 | Submitted genomic | NC_000002.10:g.(16 4217738_164252567) _(169962907_169989 662)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 164,217,738 | 164,252,567 | 169,962,907 | 169,989,662 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15128015 | NCBI36: NC_000002.10:g.(164217738_164252567)_(169962907_169989662)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000451886.2, VCV000398866.2 | 1 |