A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978365



Internal ID18613570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14704648..14706127hg38UCSC Ensembl
Innerchr17:14607965..14609444hg19UCSC Ensembl
Innerchr17:14548690..14550169hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381480
hg191480
hg181480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2077338, nssv2077334, nssv2077335, nssv2077343, nssv2077336, nssv2077340, nssv2077339, nssv2077342, nssv2077337, nssv2077341
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)nsv978365
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer