A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240



Internal ID15551130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:67519431..67553321hg38UCSC Ensembl
Outerchr8:68431666..68465556hg19UCSC Ensembl
Outerchr8:68594220..68628110hg18UCSC Ensembl
Outerchr8:68594220..68628110hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg385550
hg195550
hg185550
hg175550
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8507
SamplesNA12156
Known GenesCPA6
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)nsv6240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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