A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2337



Internal ID15540804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48502122..48517090hg38UCSC Ensembl
Outerchr20:47130368..47133628hg19UCSC Ensembl
Outerchr20:46563775..46567035hg18UCSC Ensembl
Outerchr20:46563775..46567035hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3816097
hg1916097
hg1816097
hg1716097
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3406
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2337
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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