A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281760



Internal ID22135413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75044187..75044500hg38UCSC Ensembl
chr17:73040282..73040595hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186127
Supporting Variants
SamplesHG00513
Known GenesATP5H
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281760
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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