A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv793193



Internal ID16087149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37533312..39041381hg38UCSC Ensembl
Innerchr12:37927114..39435183hg19UCSC Ensembl
Innerchr12:36213381..37721450hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg381508070
hg191508070
hg181508070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558350
Supporting Variants
Samples
Known GenesALG10B, CPNE8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv793193
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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