A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978456



Internal ID18613661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67773800..67777338hg38UCSC Ensembl
Innerchr17:65769916..65773454hg19UCSC Ensembl
Innerchr17:63200378..63203916hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383539
hg193539
hg183539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2108736, nssv2108728, nssv2108732, nssv2108731, nssv2108733, nssv2108730, nssv2108734, nssv2108735, nssv2108737, nssv2108729
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)nsv978456
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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