A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv796324



Internal ID15743594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57467189..57476865hg38UCSC Ensembl
Innerchr12:57860972..57870648hg19UCSC Ensembl
Innerchr12:56147239..56156915hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg389677
hg199677
hg189677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559035
Supporting Variants
Samples
Known GenesARHGAP9, GLI1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv796324
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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