nsv4684195
- 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:1,578,050
- Description:GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3 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: 3506 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3506 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684195 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 57,880,535 | 59,458,584 |
| nsv4684195 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 58,346,207 | 59,924,256 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215241 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001194535.1, VCV000929333.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215241 | Remapped | Perfect | NC_000001.11:g.(?_ 57880535)_(5945858 4_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 57,880,535 | 59,458,584 |
| nssv16215241 | Submitted genomic | NC_000001.10:g.(?_ 58346207)_(5992425 6_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 58,346,207 | 59,924,256 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215241 | GRCh37: NC_000001.10:g.(?_58346207)_(59924256_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001194535.1, VCV000929333.1 | 3 |