A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576478



Internal ID16017201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10795053..10809198hg38UCSC Ensembl
Innerchr18:10795051..10809196hg19UCSC Ensembl
Innerchr18:10785051..10799196hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3814146
hg1914146
hg1814146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878120
Samples
Known GenesPIEZO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576478
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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