A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118761



Internal ID18916739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46292034..46318334hg38UCSC Ensembl
Outerchr17:44369400..44395700hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3826301
hg1926301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981071
SamplesKWS1
Known GenesARL17A, ARL17B, LRRC37A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118761
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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