A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5748



Internal ID15543665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40849325..40855556hg38UCSC Ensembl
Outerchr19:41355230..41361461hg19UCSC Ensembl
Outerchr19:46047070..46053301hg18UCSC Ensembl
Outerchr19:46047070..46053301hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3832054
hg1932054
hg1832054
hg1732054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2490
Supporting Variants
SamplesNA19129
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)nssv5748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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