A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428327



Internal ID5948005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46556968..46718490hg19UCSC Ensembl
Innerchr16:45114469..45275991hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv453243
SamplesHGDP00449
Known GenesANKRD26P1, SHCBP1, VPS35
Method
AnalysisCNVRs were generated by merging all individual human CNV calls.
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry et al 2008b
Pubmed ID18775914
Accession Number(s)nsv428327
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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