A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577962



Internal ID16018685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80071200..80074823hg38UCSC Ensembl
Innerchr18:77831200..77833127hg19UCSC Ensembl
Innerchr18:75932188..75934115hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383624
hg191928
hg181928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv890308, nssv890312, nssv890309, nssv890306, nssv890305, nssv890310, nssv890311, nssv890307
Samples
Known GenesRBFADN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577962
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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