A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065570



Internal ID18808101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31394649..31469651hg38UCSC Ensembl
Innerchr18:28974612..29049614hg19UCSC Ensembl
Innerchr18:27228610..27303612hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3875003
hg1975003
hg1875003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3328n100
Supporting Variantsnssv3564159, nssv3725309, nssv3564158, nssv3725307, nssv3725308, nssv3725306
Samples
Known GenesDSG3, DSG4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065570
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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