A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3447



Internal ID15548057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63433681..63474614hg38UCSC Ensembl
Outerchr20:62065034..62105967hg19UCSC Ensembl
Outerchr20:61535478..61576411hg18UCSC Ensembl
Outerchr20:61535478..61576411hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg385732
hg195732
hg185732
hg175732
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5890, nssv3069
SamplesNA18555, NA19129
Known GenesKCNQ2
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)nsv3447
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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