A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039



Internal ID15548708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:141230054..141263710hg38UCSC Ensembl
Outerchr3:140948896..140982552hg19UCSC Ensembl
Outerchr3:142431586..142465242hg18UCSC Ensembl
Outerchr3:142431594..142465250hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg387332
hg197332
hg187332
hg177332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv335
SamplesNA19240
Known GenesACPL2
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)nsv4039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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