A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056488



Internal ID19145707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254209..25522742hg38UCSC Ensembl
Innerchr22:25650176..25918709hg19UCSC Ensembl
Innerchr22:23980176..24248709hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38268534
hg19268534
hg18268534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3733306
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056488
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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