A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059439



Internal ID19148658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58255047..58268730hg38UCSC Ensembl
Innerchr18:55922279..55935962hg19UCSC Ensembl
Innerchr18:54073259..54086942hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3813684
hg1913684
hg1813684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3361n100
Supporting Variantsnssv3565472, nssv3726081, nssv3565471, nssv3565475, nssv3726080, nssv3565473, nssv3565474
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)nsv1059439
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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