A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981948



Internal ID18617144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:64762487..64768420hg38UCSC Ensembl
Innerchr8:65675044..65680977hg19UCSC Ensembl
Innerchr8:65837598..65843531hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg385934
hg195934
hg185934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2506260, nssv2506256, nssv2506251, nssv2506253, nssv2506258, nssv2506259, nssv2506252, nssv2506255, nssv2506257, nssv2506254
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYP7B1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981948
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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