A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6372055



Internal ID21029608
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 StatusM
Merged Variants
Supporting Variantsnssv18209333
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)nsv6372055
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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