A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555451



Internal ID16342860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77120965..77180615hg38UCSC Ensembl
Innerchr11:76832011..76891661hg19UCSC Ensembl
Innerchr11:76509659..76569309hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3859651
hg1959651
hg1859651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv779225
Samples
Known GenesCAPN5, MYO7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555451
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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