nsv3872106
- 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:7,905
- Description:GRCh37/hg19 3q21.3(chr3:126068557-126076461)x1 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: 126 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3872106 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 126,349,714 | 126,357,618 |
| nsv3872106 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 126,068,557 | 126,076,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15164171 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000742754.2, VCV000606118.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15164171 | Remapped | Perfect | NC_000003.12:g.(?_ 126349714)_(126357 618_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 126,349,714 | 126,357,618 |
| nssv15164171 | Submitted genomic | NC_000003.11:g.(?_ 126068557)_(126076 461_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 126,068,557 | 126,076,461 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15164171 | GRCh37: NC_000003.11:g.(?_126068557)_(126076461_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000742754.2, VCV000606118.2 | 1 |