A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128765



Internal ID18926704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45512234..45520134hg38UCSC Ensembl
Outerchr17:43589600..43597500hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387901
hg197901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1473n106
Supporting Variantsnssv3960678
SamplesKWS1
Known GenesLRRC37A4P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128765
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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