A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967582



Internal ID18256124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42341754..42343744hg38UCSC Ensembl
Innerchr8:42199272..42201262hg19UCSC Ensembl
Innerchr8:42318429..42320419hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381991
hg191991
hg181991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2501468, nssv2500671, nssv2501471, nssv2501469, nssv2500673, nssv2501472, nssv2500674, nssv2501470, nssv2500675, nssv2500672
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPOLB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967582
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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