A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524936



Internal ID18476531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111885161..111989037hg38UCSC Ensembl
Innerchr12:112322965..112426841hg19UCSC Ensembl
Innerchr12:110807348..110911224hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38103877
hg19103877
hg18103877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044606
Supporting Variants
Samples
Known GenesADAM1A, MAPKAPK5, TMEM116
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524936
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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