A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971343



Internal ID18606563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101559169..101562327hg38UCSC Ensembl
Innerchr8:102571397..102574555hg19UCSC Ensembl
Innerchr8:102640573..102643731hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383159
hg193159
hg183159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2516369, nssv2516376, nssv2516375, nssv2516378, nssv2516377, nssv2516371, nssv2516374, nssv2516373, nssv2516370, nssv2516372
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGRHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971343
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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