A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978401



Internal ID18613606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27084040..27097893hg38UCSC Ensembl
Innerchr17:25411066..25424919hg19UCSC Ensembl
Innerchr17:22435193..22449046hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3813854
hg1913854
hg1813854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2087252, nssv2087254, nssv2087256, nssv2087253, nssv2087258, nssv2087257, nssv2087255, nssv2087250, nssv2087249, nssv2087251
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)nsv978401
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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