A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378779



Internal ID22281144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60518350..60518503hg38UCSC Ensembl
chr17:58595711..58595864hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215802
Supporting Variants
SamplesNA19239
Known GenesAPPBP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378779
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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