A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000294



Internal ID16946560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29250583..29259382hg38UCSC Ensembl
Outerchr17:27577601..27586400hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953873
Supporting Variants
SamplesBILGI_BIOE
Known GenesCRYBA1, NUFIP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000294
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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