A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062029



Internal ID19151248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58262733..58279858hg38UCSC Ensembl
Innerchr18:55929965..55947090hg19UCSC Ensembl
Innerchr18:54080945..54098070hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3817126
hg1917126
hg1817126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3362n100
Supporting Variantsnssv3565477
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)nsv1062029
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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