A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175726



Internal ID15534428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57450266..57527405hg38UCSC Ensembl
Innerchr12:57844049..57921188hg19UCSC Ensembl
Innerchr12:56130316..56207455hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3877140
hg1977140
hg1877140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559032
Supporting Variants
SamplesNINDS_70
Known GenesARHGAP9, DDIT3, GLI1, INHBC, INHBE, MARS, MBD6, MIR6758
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175726
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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