A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971673



Internal ID18260204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:81283419..81285109hg38UCSC Ensembl
Innerchr8:82195654..82197344hg19UCSC Ensembl
Innerchr8:82358209..82359899hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381691
hg191691
hg181691
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2509337, nssv2509333, nssv2509334, nssv2509335, nssv2509340, nssv2509336, nssv2509339, nssv2509341, nssv2509332, nssv2509338
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFABP5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971673
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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