A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044428



Internal ID18786959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110227288..110387994hg38UCSC Ensembl
Innerchr12:110665093..110825799hg19UCSC Ensembl
Innerchr12:109149476..109310182hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38160707
hg19160707
hg18160707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524903
Samples
Known GenesANAPC7, ATP2A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044428
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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