A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989850



Internal ID18884146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46292034..46443334hg38UCSC Ensembl
Outerchr17:44369400..44520700hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38151301
hg19151301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136238
Supporting Variants
SamplesKWS2
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989850
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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