nsv6636765
- 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:320,186
- Description:GRCh37/hg19 8p23.1(chr8:8409391-8729438)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: 1215 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 846 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1215 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636765 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 8,551,881 | 8,871,928 |
| nsv6636765 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,480,057 | 4,800,242 |
| nsv6636765 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 8,409,391 | 8,729,438 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329985 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473717.1, VCV001808400.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329985 | Remapped | Good | NW_018654717.1:g.( ?_4480057)_(480024 2_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,480,057 | 4,800,242 |
| nssv18329985 | Remapped | Perfect | NC_000008.11:g.(?_ 8551881)_(8871928_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 8,551,881 | 8,871,928 |
| nssv18329985 | Submitted genomic | NC_000008.10:g.(?_ 8409391)_(8729438_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 8,409,391 | 8,729,438 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329985 | GRCh37: NC_000008.10:g.(?_8409391)_(8729438_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002473717.1, VCV001808400.1 | 1 |