A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576481



Internal ID16017204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10991150..11054092hg38UCSC Ensembl
Innerchr18:10991148..11054091hg19UCSC Ensembl
Innerchr18:10981148..11044091hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3862943
hg1962944
hg1862944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878121
Samples
Known GenesPIEZO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576481
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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