A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998722



Internal ID16944988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31308383..31322482hg38UCSC Ensembl
Outerchr17:29635401..29649500hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3814100
hg1914100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953876
Supporting Variants
SamplesBILGI_BIOE
Known GenesEVI2A, EVI2B, NF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998722
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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