A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993735



Internal ID18899088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78550343..78550410hg38UCSC Ensembl
Outerchr17:76546425..76546492hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142229
Supporting Variants
SamplesKWS2
Known GenesDNAH17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993735
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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