A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3590815



Internal ID18542410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41869381..41985423hg38UCSC Ensembl
Innerchr22:42265385..42381427hg19UCSC Ensembl
Innerchr22:40595331..40711373hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38116043
hg19116043
hg18116043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057208
Supporting Variants
Samples
Known GenesCENPM, LINC00634, MIR33A, SEPT3, SHISA8, SREBF2, TNFRSF13C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3590815
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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