nsv4674423
- 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:1,693,999
- Description:GRCh37/hg19 3q29(chr3:195652973-197346971)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: 7951 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 7951 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674423 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,926,102 | 197,620,100 |
| nsv4674423 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,652,973 | 197,346,971 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208667 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001007436.1, VCV000816511.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208667 | Remapped | Perfect | NC_000003.12:g.(?_ 195926102)_(197620 100_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,926,102 | 197,620,100 |
| nssv16208667 | Submitted genomic | NC_000003.11:g.(?_ 195652973)_(197346 971_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,652,973 | 197,346,971 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208667 | GRCh37: NC_000003.11:g.(?_195652973)_(197346971_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001007436.1, VCV000816511.1 | 1 |