A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980211



Internal ID18268725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68813327..68832059hg38UCSC Ensembl
Innerchr4:69679045..69697777hg19UCSC Ensembl
Innerchr4:69713634..69732366hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3818733
hg1918733
hg1818733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2322614, nssv2322612, nssv2322616, nssv2322610, nssv2322613, nssv2322615, nssv2322618, nssv2322611, nssv2322609, nssv2322617
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUGT2B10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980211
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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