A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589258



Internal ID18887539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15533098..15875556hg38UCSC Ensembl
Innerchr22:16102407..16444865hg19UCSC Ensembl
Innerchr22:14482407..14824865hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38342459
hg19342459
hg18342459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065110
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3589258
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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