A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060895



Internal ID18803426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19047585hg38UCSC Ensembl
Innerchr22:18876416..19035098hg19UCSC Ensembl
Innerchr22:17256416..17415098hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38158683
hg19158683
hg18158683
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4473n100
Supporting Variantsnssv3587273, nssv3587274
Samples
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060895
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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