A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056712



Internal ID18799243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25330696..25602474hg38UCSC Ensembl
Innerchr22:25726663..25998441hg19UCSC Ensembl
Innerchr22:24056663..24328441hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38271779
hg19271779
hg18271779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4550n100
Supporting Variantsnssv3600701, nssv3600698, nssv3600700, nssv3600699
Samples
Known GenesADRBK2, CRYBB2P1, 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)nsv1056712
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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