A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14354991



Internal ID22315218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77520130..77520130hg38UCSC Ensembl
chr10:79279888..79279888hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559383
Supporting Variants
SamplesNA19240
Known GenesKCNMA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14354991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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