nsv3886476
- 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:14,174
- Description:GRCh37/hg19 5p15.2(chr5:10636151-10650324)x0 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: 319 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 319 SVs from 54 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3886476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 10,636,039 | 10,650,212 |
nsv3886476 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 10,636,151 | 10,650,324 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15164820 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000744423.2, VCV000607787.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15164820 | Remapped | Perfect | NC_000005.10:g.(?_ 10636039)_(1065021 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 10,636,039 | 10,650,212 |
nssv15164820 | Submitted genomic | NC_000005.9:g.(?_1 0636151)_(10650324 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 10,636,151 | 10,650,324 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15164820 | GRCh37: NC_000005.9:g.(?_10636151)_(10650324_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000744423.2, VCV000607787.2 | 0 |