A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv796310



Internal ID16090266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56944932..56987475hg38UCSC Ensembl
Innerchr12:57338716..57381259hg19UCSC Ensembl
Innerchr12:55624983..55667526hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3842544
hg1942544
hg1842544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559021
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)nssv796310
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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