A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960473



Internal ID18249038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36154369..36242140hg38UCSC Ensembl
Innerchr17:34481749..34569586hg19UCSC Ensembl
Innerchr17:31505862..31593699hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3887772
hg1987838
hg1887838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2092914, nssv2092906, nssv2092907, nssv2092905, nssv2092912, nssv2092911, nssv2092910, nssv2092909, nssv2092908, nssv2092913
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960473
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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