A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960137



Internal ID18595390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64592615..64598166hg38UCSC Ensembl
Innerchr17:62588733..62594284hg19UCSC Ensembl
Innerchr17:60019195..60024746hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg385552
hg195552
hg185552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2106844, nssv2106838, nssv2106846, nssv2106845, nssv2106840, nssv2106839, nssv2106842, nssv2106843, nssv2106837, nssv2106841
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSMURF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960137
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer