A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3406



Internal ID15548012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48494314..48524415hg38UCSC Ensembl
Outerchr20:47122560..47140953hg19UCSC Ensembl
Outerchr20:46555967..46574360hg18UCSC Ensembl
Outerchr20:46555967..46574360hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3810709
hg1910709
hg1810709
hg1710709
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2337, nssv6946, nssv10299, nssv11039, nssv4542, nssv5885, nssv9867, nssv1608, nssv9366
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, 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)nsv3406
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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