A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555643



Internal ID15996366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85977166..86046547hg38UCSC Ensembl
Innerchr11:85688209..85757589hg19UCSC Ensembl
Innerchr11:85365857..85435237hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3869382
hg1969381
hg1869381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2041n54
Supporting Variantsnssv1176190, nssv779885
SamplesNINDS_147
Known GenesPICALM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555643
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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