A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522386



Internal ID8416661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119087992..119194224hg38UCSC Ensembl
Innerchr4:120009147..120115379hg19UCSC Ensembl
Innerchr4:120228595..120334827hg18UCSC Ensembl
Innerchr4:120366750..120472982hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38106233
hg19106233
hg18106233
hg17106233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695165
Samples
Known GenesMYOZ2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522386
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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