A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322461



Internal ID22227137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117214474..117214474hg38UCSC Ensembl
chr5:116550170..116550170hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563637
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322461
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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