A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv857714



Internal ID15804984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55787063..55830540hg38UCSC Ensembl
Innerchr16:55820975..55864452hg19UCSC Ensembl
Innerchr16:54378476..54421953hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3843478
hg1943478
hg1843478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv572685
Supporting Variants
Samples
Known GenesCES1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv857714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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