A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3369



Internal ID15547971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:36157686..36192677hg38UCSC Ensembl
Outerchr20:34745608..34780599hg19UCSC Ensembl
Outerchr20:34209022..34244013hg18UCSC Ensembl
Outerchr20:34209022..34244013hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg385995
hg195995
hg185995
hg175995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1600
SamplesNA19240
Known GenesEPB41L1
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)nsv3369
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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