nsv4457258
- 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:100,784
- Description:GRCh37/hg19 7q22.3(chr7:107014544-107115209)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: 301 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457258 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 107,374,099 | 107,474,764 |
| nsv4457258 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_017852930.1 | Chr7|NW_01 7852930.1 | 219,629 | 320,412 |
| nsv4457258 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 107,014,544 | 107,115,209 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776249 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848933.2, VCV000688242.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776249 | Remapped | Good | NW_017852930.1:g.( ?_219629)_(320412_ ?)del | GRCh38.p12 | Second Pass | NW_017852930.1 | Chr7|NW_01 7852930.1 | 219,629 | 320,412 |
| nssv15776249 | Remapped | Perfect | NC_000007.14:g.(?_ 107374099)_(107474 764_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 107,374,099 | 107,474,764 |
| nssv15776249 | Submitted genomic | NC_000007.13:g.(?_ 107014544)_(107115 209_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 107,014,544 | 107,115,209 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776249 | GRCh37: NC_000007.13:g.(?_107014544)_(107115209_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000848933.2, VCV000688242.2 | 1 |