A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384655



Internal ID22297707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63488529..63488529hg38UCSC Ensembl
chr17:61565890..61565890hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560804
Supporting Variants
SamplesNA19240
Known GenesACE
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384655
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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