A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038827



Internal ID18781358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122142824..122203366hg38UCSC Ensembl
Innerchr12:122627371..122687913hg19UCSC Ensembl
Innerchr12:121193324..121253866hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3860543
hg1960543
hg1860543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712609
Samples
Known GenesIL31, LRRC43, MLXIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038827
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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