A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206824



Internal ID20773865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41572303..44198988hg38UCSC Ensembl
chr22:41968307..44594868hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382626686
hg192626562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6535893
Supporting Variants
Samples
Known GenesA4GALT, ARFGAP3, ATP5L2, BIK, C22orf46, CCDC134, CENPM, CSDC2, CYB5R3, CYP2D6, CYP2D7P, DESI1, EFCAB6, EFCAB6-AS1, FAM109B, LINC00634, LOC388906, MCAT, MEI1, MIR33A, MPPED1, NAGA, NDUFA6, NDUFA6-AS1, NFAM1, NHP2L1, PACSIN2, PARVB, PARVG, PMM1, PNPLA3, PNPLA5, POLDIP3, RNU12, RRP7A, RRP7B, SAMM50, SCUBE1, SEPT3, SERHL, SERHL2, SHISA8, SMDT1, SREBF2, SULT4A1, TCF20, TNFRSF13C, TSPO, TTLL1, TTLL12, WBP2NL, XRCC6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206824
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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