A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964055



Internal ID18599293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68627556..68670941hg38UCSC Ensembl
Innerchr4:69493274..69536659hg19UCSC Ensembl
Innerchr4:69175869..69219254hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3843386
hg1943386
hg1843386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2322385, nssv2322387, nssv2322381, nssv2322388, nssv2322379, nssv2322382, nssv2322384, nssv2322383, nssv2322386, nssv2322380
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUGT2B15
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964055
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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