A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960414



Internal ID18595665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14179603..14185525hg38UCSC Ensembl
Innerchr17:14082920..14088842hg19UCSC Ensembl
Innerchr17:14023645..14029567hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg385923
hg195923
hg185923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2077818, nssv2077825, nssv2077822, nssv2077826, nssv2077821, nssv2077823, nssv2077824, nssv2077820, nssv2077819, nssv2077827
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCOX10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960414
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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