A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577032



Internal ID16017755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57517516..57756707hg38UCSC Ensembl
Innerchr18:55184748..55423939hg19UCSC Ensembl
Innerchr18:53335746..53574937hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38239192
hg19239192
hg18239192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149815
SamplesHGDP01212
Known GenesATP8B1, FECH, LOC100505549, NARS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577032
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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