A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705219



Internal ID15441871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77129663..77140993hg38UCSC Ensembl
Innerchr11:76840709..76852039hg19UCSC Ensembl
Innerchr11:76518357..76529687hg18UCSC Ensembl
Innerchr11:76518357..76529687hg17UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3811331
hg1911331
hg1811331
hg1711331
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528593
Supporting Variants
Samples
Known GenesMYO7A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705219
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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