A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041269



Internal ID18783800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18409166..18421881hg38UCSC Ensembl
Innerchr12:18562100..18574815hg19UCSC Ensembl
Innerchr12:18453367..18466082hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3812716
hg1912716
hg1812716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1397n100
Supporting Variantsnssv3511041
Samples
Known GenesPIK3C2G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041269
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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