A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274263



Internal ID22187194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46954232..46993466hg38UCSC Ensembl
Outerchr4:46956249..46995483hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381211
hg191211
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225033
Supporting Variants
SamplesHG00731
Known GenesGABRA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274263
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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