A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998733



Internal ID17291685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37641073..37649771hg38UCSC Ensembl
Outerchr17:36001101..36009800hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg388699
hg198700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953887
Supporting Variants
SamplesBILGI_BIOE
Known GenesDDX52
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998733
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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