A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981133



Internal ID18269646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34417379..34425744hg38UCSC Ensembl
Innerchr6:34385156..34393521hg19UCSC Ensembl
Innerchr6:34493134..34501499hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg388366
hg198366
hg188366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2403550, nssv2403548, nssv2403547, nssv2403551, nssv2403546, nssv2403553, nssv2403545, nssv2403554, nssv2403552, nssv2403549
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRPS10, RPS10-NUDT3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981133
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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