A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3449



Internal ID15548059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63675224..63696622hg38UCSC Ensembl
Outerchr20:62306577..62327975hg19UCSC Ensembl
Outerchr20:61777021..61798419hg18UCSC Ensembl
Outerchr20:61777021..61798419hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg389317
hg199317
hg189317
hg179317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6949, nssv11041, nssv5891, nssv4549, nssv2343, nssv10305
SamplesNA12156, NA12878, NA18956, NA15510, NA18555, NA19129
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)nsv3449
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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