A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399



Internal ID15548004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47815187..47848749hg38UCSC Ensembl
Outerchr20:46443931..46477493hg19UCSC Ensembl
Outerchr20:45877338..45910900hg18UCSC Ensembl
Outerchr20:45877338..45910900hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg386394
hg196394
hg186394
hg176394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5882, nssv7687, nssv11037, nssv2334, nssv4539
SamplesNA12156, NA12878, NA15510, NA18555, NA19129
Known Genes
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)nsv3399
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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