A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187714



Internal ID21326547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9624549..9624549hg38UCSC Ensembl
chr20:9605196..9605196hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950920
Supporting Variants
SamplesHG002
Known GenesPAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187714
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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