A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3448



Internal ID15201372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63488613..63520639hg38UCSC Ensembl
Outerchr20:62119966..62151992hg19UCSC Ensembl
Outerchr20:61590410..61622436hg18UCSC Ensembl
Outerchr20:61590410..61622436hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg387466
hg197466
hg187466
hg177466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10304
SamplesNA18956
Known GenesEEF1A2
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)nsv3448
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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