A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960500



Internal ID18595751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49408932..49410401hg38UCSC Ensembl
Innerchr17:47486294..47487763hg19UCSC Ensembl
Innerchr17:44841293..44842762hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381470
hg191470
hg181470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2101208, nssv2101215, nssv2101214, nssv2101216, nssv2101217, nssv2101212, nssv2101210, nssv2101209, nssv2101213, nssv2101211
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPHB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960500
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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