A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981391



Internal ID18857348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31391382..31392182hg38UCSC Ensembl
Outerchr17:29718400..29719200hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144796
Supporting Variants
SamplesKWS1
Known GenesRAB11FIP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981391
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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