A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960495



Internal ID18249060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46503611..46560061hg38UCSC Ensembl
Innerchr17:44580977..44637427hg19UCSC Ensembl
Innerchr17:41936293..41992743hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3856451
hg1956451
hg1856451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2100046, nssv2100049, nssv2100050, nssv2100045, nssv2100047, nssv2100054, nssv2100052, nssv2100048, nssv2100051, nssv2100053
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesARL17A, ARL17B, LRRC37A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960495
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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