A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1044



Internal ID15545060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120395798..120428698hg38UCSC Ensembl
Outerchr11:120266507..120299407hg19UCSC Ensembl
Outerchr11:119771717..119804617hg18UCSC Ensembl
Outerchr11:119771717..119804617hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg388078
hg198078
hg188078
hg178078
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519
Supporting Variants
SamplesNA19240
Known GenesARHGEF12
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)nssv1044
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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