A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000914



Internal ID16947180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233064591..233076390hg38UCSC Ensembl
Outerchr2:233929301..233941100hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811800
hg1911800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953204
Supporting Variants
SamplesBILGI_BIOE
Known GenesINPP5D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000914
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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