A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5889



Internal ID15196810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63095921..63104028hg38UCSC Ensembl
Outerchr20:61727273..61735380hg19UCSC Ensembl
Outerchr20:61197718..61205825hg18UCSC Ensembl
Outerchr20:61197718..61205825hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg386696
hg196696
hg186696
hg176696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3444
Supporting Variants
SamplesNA19129
Known GenesHAR1A, HAR1B
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)nssv5889
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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