A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3503036



Internal ID18454631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494796..27506809hg38UCSC Ensembl
Innerchr12:27647729..27659742hg19UCSC Ensembl
Innerchr12:27538996..27551009hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3812014
hg1912014
hg1812014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043312
Supporting Variants
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)nssv3503036
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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