A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428335



Internal ID5948069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236897959..237076972hg19UCSC Ensembl
Innerchr1:234964582..235143595hg18UCSC Ensembl
Cytoband1q43
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 Variantsnssv453175
SamplesNA19113
Known GenesACTN2, MTR
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)nsv428335
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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