A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520130



Internal ID15447423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:73472553..73512731hg38UCSC Ensembl
Innerchr11:73183598..73223776hg19UCSC Ensembl
Innerchr11:72861246..72901424hg18UCSC Ensembl
Innerchr11:72861246..72901424hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3840179
hg1940179
hg1840179
hg1740179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674898, nssv690125, nssv661065
Samples
Known GenesFAM168A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520130
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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