A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981922



Internal ID18270432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27734880..27735880hg38UCSC Ensembl
Innerchr8:27592397..27593397hg19UCSC Ensembl
Innerchr8:27648316..27649316hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2497828, nssv2497830, nssv2497829, nssv2497823, nssv2497832, nssv2497827, nssv2497826, nssv2497824, nssv2497825, nssv2497831
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCCDC25
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981922
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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