A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980650



Internal ID18615850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65209995..65211740hg38UCSC Ensembl
Innerchr5:64505822..64507567hg19UCSC Ensembl
Innerchr5:64541578..64543323hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381746
hg191746
hg181746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2358560, nssv2358559, nssv2358561, nssv2358562, nssv2358554, nssv2358555, nssv2358558, nssv2358556, nssv2358563, nssv2358557
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesADAMTS6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980650
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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