A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577963



Internal ID16018686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80071200..80081190hg38UCSC Ensembl
Innerchr18:77831200..77839092hg19UCSC Ensembl
Innerchr18:75932188..75940080hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg389991
hg197893
hg187893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv890313
Samples
Known GenesRBFADN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577963
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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