A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2356



Internal ID15546919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74284671..74319737hg38UCSC Ensembl
Outerchr18:71951906..71986972hg19UCSC Ensembl
Outerchr18:70102886..70137952hg18UCSC Ensembl
Outerchr18:70102886..70137952hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg385920
hg195920
hg185920
hg175920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1425
SamplesNA19240
Known GenesC18orf63, CYB5A
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)nsv2356
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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