A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053243



Internal ID18795774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27493041..27504228hg38UCSC Ensembl
Innerchr12:27645974..27657161hg19UCSC Ensembl
Innerchr12:27537241..27548428hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3811188
hg1911188
hg1811188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1407n100
Supporting Variantsnssv3522242
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)nsv1053243
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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