A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517318



Internal ID15097925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86053909..86068874hg38UCSC Ensembl
Innerchr4:86975062..86990027hg19UCSC Ensembl
Innerchr4:87194086..87209051hg18UCSC Ensembl
Innerchr4:87332241..87347206hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3814966
hg1914966
hg1814966
hg1714966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655409, nssv658893, nssv671133, nssv652605, nssv693838, nssv686428, nssv661963, nssv654971, nssv652122, nssv678850, nssv663050, nssv677099, nssv666701, nssv656844, nssv688230, nssv656810, nssv670490, nssv658600, nssv689982, nssv664044, nssv664568, nssv678538, nssv655043, nssv659284, nssv666597, nssv653819, nssv655480, nssv674351, nssv661424, nssv671404, nssv665481, nssv656954, nssv682272, nssv668644, nssv675179, nssv670291, nssv676121, nssv658265, nssv670566, nssv672456, nssv683596, nssv687896, nssv675450, nssv665339, nssv691836, nssv664958, nssv692877, nssv694021, nssv654295, nssv665134, nssv668058, nssv683696, nssv656412, nssv662212, nssv684339, nssv685747, nssv675417, nssv682853, nssv693610, nssv660999, nssv688723, nssv661614, nssv666327, nssv674102, nssv660442, nssv688269, nssv661178, nssv690164, nssv689631, nssv663526, nssv669439, nssv665235, nssv674783, nssv660980, nssv658829, nssv664713, nssv675646, nssv676018, nssv672143, nssv669977, nssv657508, nssv676509, nssv688349, nssv681671, nssv660796, nssv654105, nssv677820, nssv677030, nssv663496, nssv658859, nssv656367, nssv658507, nssv675910, nssv666657, nssv684169
Samples
Known GenesMAPK10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517318
Frequency
Sample Size2026
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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