A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2032



Internal ID15546595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:97854295..97903729hg38UCSC Ensembl
Outerchr1:98319851..98369285hg19UCSC Ensembl
Outerchr1:98092439..98141873hg18UCSC Ensembl
Outerchr1:98031872..98081306hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3849435
hg1949435
hg1849435
hg1749435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9547
SamplesNA18507
Known GenesDPYD
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)nsv2032
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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