A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064273



Internal ID18806804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12697602..12828252hg38UCSC Ensembl
Innerchr18:12697601..12828251hg19UCSC Ensembl
Innerchr18:12687601..12818251hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38130651
hg19130651
hg18130651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564108
Samples
Known GenesCEP76, PSMG2, PTPN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064273
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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