A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039509



Internal ID18782040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6978884..7058255hg38UCSC Ensembl
Innerchr12:7088046..7165559hg19UCSC Ensembl
Innerchr12:6958307..7035820hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3879372
hg1977514
hg1877514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3708081
Samples
Known GenesLPCAT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039509
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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