A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036522



Internal ID19125741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42532273..42568085hg38UCSC Ensembl
Innerchr12:42926075..42961887hg19UCSC Ensembl
Innerchr12:41212342..41248154hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3835813
hg1935813
hg1835813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712456
Samples
Known GenesPRICKLE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1036522
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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