A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038967



Internal ID18781498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18409166..18421951hg38UCSC Ensembl
Innerchr12:18562100..18574885hg19UCSC Ensembl
Innerchr12:18453367..18466152hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3812786
hg1912786
hg1812786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1397n100
Supporting Variantsnssv3506921
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)nsv1038967
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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