A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv189



Internal ID15036987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63675224..63696350hg38UCSC Ensembl
Outerchr20:62306577..62327703hg19UCSC Ensembl
Outerchr20:61777021..61798147hg18UCSC Ensembl
Outerchr20:61777021..61798147hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3810119
hg1910119
hg1810119
hg1710119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv189
SamplesNA15510
Known GenesRTEL1, RTEL1-TNFRSF6B
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nsv189
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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