A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209333



Internal ID20776373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48386801..49230000hg38UCSC Ensembl
chr3:48428291..49267433hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38843200
hg19839143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6372055
Supporting Variants
Samples
Known GenesARIH2, ARIH2OS, ATRIP, C3orf84, CCDC36, CCDC51, CCDC71, CELSR3, COL7A1, DALRD3, FBXW12, IMPDH2, IP6K2, KLHDC8B, LAMB2, LAMB2P1, MIR191, MIR425, MIR4793, MIR6823, MIR6824, MIR6890, MIR711, NCKIPSD, NDUFAF3, P4HTM, PFKFB4, PLXNB1, PRKAR2A, QARS, QRICH1, SHISA5, SLC25A20, SLC26A6, TMA7, TMEM89, TREX1, UCN2, UQCRC1, USP19, WDR6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209333
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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