A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118593



Internal ID18915801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36168042..36176840hg38UCSC Ensembl
Outerchr17:34495400..34504200hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg388799
hg198801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1458n106
Supporting Variantsnssv3959106
SamplesKWS1
Known GenesTBC1D3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118593
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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