A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3520116



Internal ID18471711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24026788..24044716hg38UCSC Ensembl
Innerchr12:24179722..24197650hg19UCSC Ensembl
Innerchr12:24070989..24088917hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3817929
hg1917929
hg1817929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053666
Supporting Variants
Samples
Known GenesSOX5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3520116
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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