A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000297



Internal ID17293249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29719983..29730282hg38UCSC Ensembl
Outerchr17:28047001..28057300hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3810300
hg1910300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953875
Supporting Variants
SamplesBILGI_BIOE
Known GenesSSH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000297
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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