A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061052



Internal ID19150271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268006..25529674hg38UCSC Ensembl
Innerchr22:25663973..25925641hg19UCSC Ensembl
Innerchr22:23993973..24255641hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38261669
hg19261669
hg18261669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3600469, nssv3600470, nssv3600471, nssv3733407, nssv3600468
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)nsv1061052
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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