nsv4456720
- 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:1,976,261
- Description:GRCh37/hg19 5p15.31(chr5:7607935-9584194)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: 5870 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 5870 SVs from 114 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4456720 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 7,607,822 | 9,584,082 |
nsv4456720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 7,607,935 | 9,584,194 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775081 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846801.2, VCV000686093.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775081 | Remapped | Perfect | NC_000005.10:g.(?_ 7607822)_(9584082_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 7,607,822 | 9,584,082 |
nssv15775081 | Submitted genomic | NC_000005.9:g.(?_7 607935)_(9584194_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 7,607,935 | 9,584,194 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775081 | GRCh37: NC_000005.9:g.(?_7607935)_(9584194_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846801.2, VCV000686093.2 | 3 |