A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968213



Internal ID18603441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80498354..80501924hg38UCSC Ensembl
Innerchr5:79794173..79797743hg19UCSC Ensembl
Innerchr5:79829929..79833499hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383571
hg193571
hg183571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2367784, nssv2367781, nssv2367783, nssv2367785, nssv2367782, nssv2367780, nssv2367786, nssv2367788, nssv2367779, nssv2367787
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM151B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968213
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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