A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967580



Internal ID18256122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38210218..38213232hg38UCSC Ensembl
Innerchr8:38067736..38070750hg19UCSC Ensembl
Innerchr8:38186893..38189907hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg383015
hg193015
hg183015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2500233, nssv2500231, nssv2500235, nssv2500232, nssv2500237, nssv2500230, nssv2500229, nssv2500234, nssv2500228, nssv2500236
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBAG4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967580
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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