A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064505



Internal ID19153724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32057623..32079185hg38UCSC Ensembl
Innerchr18:29637586..29659148hg19UCSC Ensembl
Innerchr18:27891584..27913146hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3821563
hg1921563
hg1821563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725311
Samples
Known GenesRNF125
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064505
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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