A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577964



Internal ID16018687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80071200..80090098hg38UCSC Ensembl
Innerchr18:77831200..77848002hg19UCSC Ensembl
Innerchr18:75932188..75948990hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3818899
hg1916803
hg1816803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv890314
Samples
Known GenesRBFADN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577964
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer