nsv4457358
- 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:902,671
- Description:GRCh37/hg19 7q35(chr7:143572320-144474990)x3 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: 3335 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 1080 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 3335 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,875,227 | 144,777,897 |
| nsv4457358 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 1 | 680,662 |
| nsv4457358 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,572,320 | 144,474,990 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776007 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848430.2, VCV000687739.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776007 | Remapped | Pass | NW_018654715.1:g.( ?_1)_(680662_?)dup | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 1 | 680,662 |
| nssv15776007 | Remapped | Perfect | NC_000007.14:g.(?_ 143875227)_(144777 897_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,875,227 | 144,777,897 |
| nssv15776007 | Submitted genomic | NC_000007.13:g.(?_ 143572320)_(144474 990_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,572,320 | 144,474,990 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776007 | GRCh37: NC_000007.13:g.(?_143572320)_(144474990_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848430.2, VCV000687739.2 | 3 |