A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219517



Internal ID22364518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28692240..28692960hg38UCSC Ensembl
chr17:27019258..27019978hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386362, nssv14375055, nssv14391049
SamplesNA19238, HG00731, NA19240
Known GenesSUPT6H
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219517
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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