A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2490



Internal ID15547053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40834142..40867364hg38UCSC Ensembl
Outerchr19:41340047..41373269hg19UCSC Ensembl
Outerchr19:46031887..46065109hg18UCSC Ensembl
Outerchr19:46031887..46065109hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386808
hg196808
hg186808
hg176808
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2229, nssv5748
SamplesNA18555, NA19129
Known GenesCYP2A6
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)nsv2490
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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