A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056927



Internal ID18799458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50350968..50439635hg38UCSC Ensembl
Innerchr18:47877338..47966005hg19UCSC Ensembl
Innerchr18:46131336..46220003hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3888668
hg1988668
hg1888668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565443
Samples
Known GenesSKA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056927
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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