A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981938



Internal ID18617134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53531459..53535109hg38UCSC Ensembl
Innerchr8:54444019..54447669hg19UCSC Ensembl
Innerchr8:54606572..54610222hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg383651
hg193651
hg183651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2503135, nssv2503141, nssv2503138, nssv2503134, nssv2503137, nssv2503136, nssv2503139, nssv2503142, nssv2503143, nssv2503140
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981938
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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