A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056726



Internal ID18799257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31398217..31469651hg38UCSC Ensembl
Innerchr18:28978180..29049614hg19UCSC Ensembl
Innerchr18:27232178..27303612hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3871435
hg1971435
hg1871435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3328n100
Supporting Variantsnssv3564162
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)nsv1056726
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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