A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151622



Internal ID15531984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25227356..25514700hg38UCSC Ensembl
Innerchr22:25623323..25910667hg19UCSC Ensembl
Innerchr22:23953323..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38287345
hg19287345
hg18287345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588759
Supporting Variants
SamplesHGDP01239
Known GenesCRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151622
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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