A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968242



Internal ID18256784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:131359314..131362275hg38UCSC Ensembl
Innerchr5:130695007..130697968hg19UCSC Ensembl
Innerchr5:130722906..130725867hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382962
hg192962
hg182962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375543, nssv2375541, nssv2375542, nssv2375549, nssv2375545, nssv2375546, nssv2375544, nssv2375548, nssv2375547, nssv2375550
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCDC42SE2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968242
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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