A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054525



Internal ID18797056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494796..27506754hg38UCSC Ensembl
Innerchr12:27647729..27659687hg19UCSC Ensembl
Innerchr12:27538996..27550954hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3811959
hg1911959
hg1811959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1407n100
Supporting Variantsnssv3522210
Samples
Known GenesSMCO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054525
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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