A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053666



Internal ID18796197
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 StatusM
Merged Variants
Supporting Variantsnssv3520116
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)nsv1053666
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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