A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17147054



Internal ID21422076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130313575..130313575hg38UCSC Ensembl
chr7:129953415..129953415hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5637563
Supporting Variants
SamplesHG00731
Known GenesCPA4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17147054
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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