A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14357952



Internal ID22258507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76446345..76446345hg38UCSC Ensembl
chr11:76157389..76157389hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559486
Supporting Variants
SamplesNA19238
Known GenesC11orf30
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14357952
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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