nsv3877377
- 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:11,861
- Description:GRCh37/hg19 5p15.2(chr5:10638180-10650040)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: 308 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 308 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3877377 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 10,638,068 | 10,649,928 |
nsv3877377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 10,638,180 | 10,650,040 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15166375 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000744424.2, VCV000607788.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15166375 | Remapped | Perfect | NC_000005.10:g.(?_ 10638068)_(1064992 8_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 10,638,068 | 10,649,928 |
nssv15166375 | Submitted genomic | NC_000005.9:g.(?_1 0638180)_(10650040 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 10,638,180 | 10,650,040 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15166375 | GRCh37: NC_000005.9:g.(?_10638180)_(10650040_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000744424.2, VCV000607788.2 | 1 |