A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998726



Internal ID16944992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35574482..35580081hg38UCSC Ensembl
Outerchr17:33901501..33907100hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953880
Supporting Variants
SamplesBILGI_BIOE
Known GenesPEX12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998726
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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