A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964486



Internal ID18253038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:17517344..17519224hg38UCSC Ensembl
Innerchr21:18889662..18891542hg19UCSC Ensembl
Innerchr21:17811533..17813413hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381881
hg191881
hg181881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2245705, nssv2245697, nssv2245701, nssv2245703, nssv2245698, nssv2245700, nssv2245696, nssv2245704, nssv2245699, nssv2245702
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCXADR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964486
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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