A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10265



Internal ID15542533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:208029806..208062206hg38UCSC Ensembl
Outerchr2:208894530..208926930hg19UCSC Ensembl
Outerchr2:208602775..208635175hg18UCSC Ensembl
Outerchr2:208720036..208752436hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387110
hg197110
hg187110
hg177110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3135
Supporting Variants
SamplesNA18956
Known Genes
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)nssv10265
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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