A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960282



Internal ID18595535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58918625..58920322hg38UCSC Ensembl
Innerchr18:56585857..56587554hg19UCSC Ensembl
Innerchr18:54736837..54738534hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381698
hg191698
hg181698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2125560, nssv2125552, nssv2125555, nssv2125556, nssv2125558, nssv2125559, nssv2125554, nssv2125553, nssv2125557, nssv2125551
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF532
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960282
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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