A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063171



Internal ID19152390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58263306..58279755hg38UCSC Ensembl
Innerchr18:55930538..55946987hg19UCSC Ensembl
Innerchr18:54081518..54097967hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3816450
hg1916450
hg1816450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3362n100
Supporting Variantsnssv3565479
Samples
Known GenesNEDD4L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063171
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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