A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15190067



Internal ID21328913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48829590..48829590hg38UCSC Ensembl
chr3:48867023..48867023hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952407
Supporting Variants
SamplesHG002
Known GenesPRKAR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15190067
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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