A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000060



Internal ID16946326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24540580..24555279hg38UCSC Ensembl
Outerchr16:24551901..24566600hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3814700
hg1914700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952957
Supporting Variants
SamplesBILGI_BIOE
Known GenesRBBP6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000060
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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