A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10305



Internal ID15542493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63682848..63689750hg38UCSC Ensembl
Outerchr20:62314201..62321103hg19UCSC Ensembl
Outerchr20:61784645..61791547hg18UCSC Ensembl
Outerchr20:61784645..61791547hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg389708
hg199708
hg189708
hg179708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3449
Supporting Variants
SamplesNA18956
Known GenesRTEL1, RTEL1-TNFRSF6B
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)nssv10305
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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