A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517395



Internal ID15098002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18996430..19003973hg38UCSC Ensembl
Innerchr8:18853940..18861483hg19UCSC Ensembl
Innerchr8:18898220..18905763hg18UCSC Ensembl
Innerchr8:18898220..18905763hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg387544
hg197544
hg187544
hg177544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657449, nssv654510, nssv675751, nssv678681, nssv671677, nssv676626, nssv686752, nssv680947, nssv668778, nssv662895, nssv680808, nssv678411, nssv652038, nssv666406, nssv679014, nssv669697, nssv691732, nssv668365, nssv680135, nssv656751, nssv663201, nssv651896, nssv681135, nssv671902, nssv688779, nssv668284, nssv668603, nssv676601, nssv670574, nssv658357, nssv662479, nssv655848
Samples
Known GenesPSD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517395
Frequency
Sample Size2026
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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