A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978459



Internal ID18613664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68235628..68242117hg38UCSC Ensembl
Innerchr17:66231769..66238258hg19UCSC Ensembl
Innerchr17:63743364..63749853hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg386490
hg196490
hg186490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2109390, nssv2109384, nssv2109387, nssv2109391, nssv2109388, nssv2109386, nssv2109392, nssv2109393, nssv2109385, nssv2109389
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)nsv978459
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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