A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5665



Internal ID8517479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6113071..6146248hg38UCSC Ensembl
Outerchr10:6155034..6188211hg19UCSC Ensembl
Outerchr10:6195040..6228217hg18UCSC Ensembl
Outerchr10:6195040..6228217hg17UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg386569
hg196569
hg186569
hg176569
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3862
SamplesNA12878
Known GenesPFKFB3, RBM17
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)nsv5665
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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