A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789643



Internal ID15736913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23786618..23796462hg38UCSC Ensembl
Innerchr12:23939552..23949396hg19UCSC Ensembl
Innerchr12:23830819..23840663hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg389845
hg199845
hg189845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557771
Supporting Variants
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789643
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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