A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971652



Internal ID18606869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53344270..53359734hg38UCSC Ensembl
Innerchr8:54256830..54272294hg19UCSC Ensembl
Innerchr8:54419383..54434847hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3815465
hg1915465
hg1815465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2502251, nssv2502254, nssv2502245, nssv2502249, nssv2502253, nssv2502246, nssv2502252, nssv2502248, nssv2502247, nssv2502250
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971652
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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