A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323634



Internal ID22206142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148457938..148457938hg38UCSC Ensembl
chr5:147837501..147837501hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563980
Supporting Variants
SamplesHG00732
Known GenesHTR4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323634
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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