A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967571



Internal ID18256113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25445935..25446435hg38UCSC Ensembl
Innerchr8:25303451..25303951hg19UCSC Ensembl
Innerchr8:25359368..25359868hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2498480, nssv2498486, nssv2498482, nssv2498484, nssv2498481, nssv2498488, nssv2498483, nssv2498489, nssv2498485, nssv2498487
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKCTD9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967571
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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