A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3019



Internal ID15200900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166987472..167014235hg38UCSC Ensembl
Outerchr2:167843982..167870745hg19UCSC Ensembl
Outerchr2:167552228..167578991hg18UCSC Ensembl
Outerchr2:167669489..167696252hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3826764
hg1926764
hg1826764
hg1726764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10251
SamplesNA18956
Known GenesXIRP2
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)nsv3019
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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