A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517431



Internal ID15444724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178494456..178502359hg38UCSC Ensembl
Innerchr1:178463591..178471494hg19UCSC Ensembl
Innerchr1:176730214..176738117hg18UCSC Ensembl
Innerchr1:175195248..175203151hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg387904
hg197904
hg187904
hg177904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670337, nssv665325, nssv683119, nssv655960, nssv652157, nssv661194, nssv687659, nssv683662, nssv688197, nssv688435, nssv661291, nssv703322, nssv656754, nssv684157, nssv678211, nssv664300, nssv689193, nssv654306, nssv669825, nssv664446, nssv656467, nssv688983, nssv678160, nssv669007, nssv652004, nssv688900, nssv673042, nssv681635, nssv663102, nssv690204, nssv689697, nssv660818
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517431
Frequency
Sample Size2026
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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