A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977329



Internal ID18887677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36166120..36177240hg38UCSC Ensembl
Outerchr17:34493500..34504600hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3811121
hg1911101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115520
Supporting Variants
SamplesKWS2
Known GenesTBC1D3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977329
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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