A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983047



Internal ID18618241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:83976785..83978009hg38UCSC Ensembl
Innerchr11:83687828..83689052hg19UCSC Ensembl
Innerchr11:83365476..83366700hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381225
hg191225
hg181225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1898001, nssv1897998, nssv1897996, nssv1898000, nssv1898004, nssv1897997, nssv1897999, nssv1897995, nssv1898002, nssv1898003
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDLG2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983047
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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