A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186127



Internal ID22339031
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3647n152
Supporting Variantsnssv14281761, nssv14281759, nssv14281764, nssv14281762, nssv14281763, nssv14281765, nssv14281760
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
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)nsv3186127
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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