A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061153



Internal ID19150372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25351797..25522742hg38UCSC Ensembl
Innerchr22:25747764..25918709hg19UCSC Ensembl
Innerchr22:24077764..24248709hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38170946
hg19170946
hg18170946
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4556n100
Supporting Variantsnssv3600727, nssv3600730, nssv3600729, nssv3600728
Samples
Known GenesCRYBB2P1, 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)nsv1061153
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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