A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960054



Internal ID18595307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:12010377..12012080hg38UCSC Ensembl
Innerchr17:11913694..11915397hg19UCSC Ensembl
Innerchr17:11854419..11856122hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381704
hg191704
hg181704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2078639, nssv2078635, nssv2078638, nssv2078636, nssv2078634, nssv2078641, nssv2078640, nssv2078642, nssv2078637, nssv2078633
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)nsv960054
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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