A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960122



Internal ID18595375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50396733..50405742hg38UCSC Ensembl
Innerchr17:48474094..48483103hg19UCSC Ensembl
Innerchr17:45829093..45838102hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg389010
hg199010
hg189010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2101640, nssv2101637, nssv2101642, nssv2101639, nssv2101636, nssv2101634, nssv2101635, nssv2101638, nssv2101633, nssv2101641
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRRC59
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960122
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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