A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960508



Internal ID18595759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56572315..56573733hg38UCSC Ensembl
Innerchr17:54649676..54651094hg19UCSC Ensembl
Innerchr17:52004675..52006093hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381419
hg191419
hg181419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2102897, nssv2102893, nssv2102892, nssv2102891, nssv2102895, nssv2102899, nssv2102894, nssv2102890, nssv2102898, nssv2102896
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)nsv960508
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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