A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057148



Internal ID19146367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18806422..19019471hg38UCSC Ensembl
Innerchr22:18793935..19006984hg19UCSC Ensembl
Innerchr22:17173935..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38213050
hg19213050
hg18213050
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4468n100
Supporting Variantsnssv3731811, nssv3590526, nssv3590529, nssv3590524, nssv3590528, nssv3590530, nssv3590525, nssv3590527
Samples
Known GenesDGCR5, 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)nsv1057148
Frequency
Sample Size11257
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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