A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521204



Internal ID15448497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103229788..103427238hg38UCSC Ensembl
Innerchr11:103100517..103297966hg19UCSC Ensembl
Innerchr11:102605727..102803176hg18UCSC Ensembl
Innerchr11:102605727..102803176hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38197451
hg19197450
hg18197450
hg17197450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697843
Samples
Known GenesDYNC2H1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521204
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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