A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795292



Internal ID15742562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:46981125..47281897hg38UCSC Ensembl
Innerchr12:47374908..47675680hg19UCSC Ensembl
Innerchr12:45661175..45961947hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38300773
hg19300773
hg18300773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558784
Supporting Variants
Samples
Known GenesAMIGO2, MIR4698, PCED1B, PCED1B-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv795292
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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