A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062972



Internal ID19152191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25308251..25510525hg38UCSC Ensembl
Innerchr22:25704218..25906492hg19UCSC Ensembl
Innerchr22:24034218..24236492hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38202275
hg19202275
hg18202275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3600649
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)nsv1062972
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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