A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv796309



Internal ID16090265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56944932..56957778hg38UCSC Ensembl
Innerchr12:57338716..57351562hg19UCSC Ensembl
Innerchr12:55624983..55637829hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3812847
hg1912847
hg1812847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559020
Supporting Variants
Samples
Known GenesRDH16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv796309
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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