A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319310



Internal ID22266184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39423334..39423334hg38UCSC Ensembl
chr5:39423436..39423436hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564170
Supporting Variants
SamplesNA19238
Known GenesDAB2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319310
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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