A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2479



Internal ID15200356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38475107..38509569hg38UCSC Ensembl
Outerchr19:38965747..39000209hg19UCSC Ensembl
Outerchr19:43657587..43692049hg18UCSC Ensembl
Outerchr19:43657587..43692049hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385564
hg195564
hg185564
hg175564
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997
SamplesNA18555
Known GenesRYR1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2479
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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