A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978402



Internal ID18266921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27463827..27466314hg38UCSC Ensembl
Innerchr17:25790853..25793340hg19UCSC Ensembl
Innerchr17:22814980..22817467hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg382488
hg192488
hg182488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2088070, nssv2655587, nssv2655585, nssv2088076, nssv2088071, nssv2088074, nssv2088068, nssv2655588, nssv2655592, nssv2088073, nssv2088069, nssv2655583, nssv2655590, nssv2655586, nssv2088077, nssv2088075, nssv2655584, nssv2655591, nssv2088072, nssv2655589
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978402
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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