A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062938



Internal ID18805469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58351189..58452397hg38UCSC Ensembl
Innerchr18:56018421..56119629hg19UCSC Ensembl
Innerchr18:54169401..54270609hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38101209
hg19101209
hg18101209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3364n100
Supporting Variantsnssv3565489
Samples
Known GenesMIR122, MIR3591, NEDD4L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062938
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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