A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524609



Internal ID18476204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70245128..70281639hg38UCSC Ensembl
Innerchr12:70638908..70675419hg19UCSC Ensembl
Innerchr12:68925175..68961686hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3836512
hg1936512
hg1836512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048888
Supporting Variants
Samples
Known GenesCNOT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524609
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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