A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589304



Internal ID18540899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16837792hg38UCSC Ensembl
Innerchr22:16864886..17318682hg19UCSC Ensembl
Innerchr22:15244886..15698682hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38453569
hg19453797
hg18453797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065855
Supporting Variants
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, HSFY1P1, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3589304
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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