A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978460



Internal ID18266979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68269056..68269556hg38UCSC Ensembl
Innerchr17:66265197..66265697hg19UCSC Ensembl
Innerchr17:63776792..63777292hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2109585, nssv2109578, nssv2109583, nssv2109581, nssv2109580, nssv2109584, nssv2109587, nssv2109582, nssv2109579, nssv2109586
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesARSG, SLC16A6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978460
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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