A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055929



Internal ID19145148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25286813..25518352hg38UCSC Ensembl
Innerchr22:25682780..25914319hg19UCSC Ensembl
Innerchr22:24012780..24244319hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38231540
hg19231540
hg18231540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3600540
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)nsv1055929
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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