A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960040



Internal ID18595293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1857558..1863814hg38UCSC Ensembl
Innerchr17:1760852..1767108hg19UCSC Ensembl
Innerchr17:1707602..1713858hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386257
hg196257
hg186257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2070707, nssv2070708, nssv2070713, nssv2070710, nssv2070706, nssv2070712, nssv2070715, nssv2070709, nssv2070714, nssv2070711
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960040
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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