A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5132



Internal ID15203225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243820536..243854062hg38UCSC Ensembl
Outerchr1:243983838..244017364hg19UCSC Ensembl
Outerchr1:242050461..242083987hg18UCSC Ensembl
Outerchr1:240309879..240343405hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384347
hg194347
hg184347
hg174347
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10580, nssv3845
SamplesNA18956, NA12878
Known GenesAKT3
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)nsv5132
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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