nsv5380901
- 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:299,062
- Description:NC_000012.11:g.(?_48240430)_(48539491_?)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: 720 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 720 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380901 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 47,846,647 | 48,145,708 |
| nsv5380901 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 48,240,430 | 48,539,491 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866760 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001319329.3, VCV001019837.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866760 | Remapped | Perfect | NC_000012.12:g.(?_ 47846647)_(4814570 8_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 47,846,647 | 48,145,708 |
| nssv16866760 | Submitted genomic | NC_000012.11:g.(?_ 48240430)_(4853949 1_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 48,240,430 | 48,539,491 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866760 | GRCh37: NC_000012.11:g.(?_48240430)_(48539491_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001319329.3, VCV001019837.3 |