nsv4681833
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,811
- Description:NC_000012.12:g.(?_69348409)_(69353219_?)dup AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 134 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681833 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 69,348,409 | 69,353,219 |
| nsv4681833 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 69,742,189 | 69,746,999 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213743 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001032093.4, VCV000831543.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213743 | Remapped | Perfect | NC_000012.12:g.(?_ 69348409)_(6935321 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 69,348,409 | 69,353,219 |
| nssv16213743 | Submitted genomic | NC_000012.11:g.(?_ 69742189)_(6974699 9_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 69,742,189 | 69,746,999 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213743 | GRCh37: NC_000012.11:g.(?_69742189)_(69746999_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001032093.4, VCV000831543.4 |