A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428146



Internal ID5948207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100359655..100498342hg19UCSC Ensembl
Innerchr1:100132243..100270930hg18UCSC Ensembl
Cytoband1p21.2
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 Variantsnssv450620
SamplesNA19113
Known GenesAGL, SLC35A3
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)nsv428146
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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