A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6369827



Internal ID21027380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52164358..54467618hg38UCSC Ensembl
chr3:52198374..54501645hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382303261
hg192303272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209983
Samples
Known GenesACTR8, ALAS1, BAP1, CACNA1D, CACNA2D3, CHDH, DCP1A, DNAH1, GLT8D1, GLYCTK, GNL3, IL17RB, ITIH1, ITIH3, ITIH4, MIR135A1, MIR8064, MIRLET7G, MUSTN1, NEK4, NISCH, NT5DC2, PBRM1, PHF7, PPM1M, PRKCD, RFT1, SELK, SEMA3G, SFMBT1, SMIM4, SNORD19, SNORD19B, SNORD69, SPCS1, STAB1, TKT, TLR9, TMEM110, TMEM110-MUSTN1, TNNC1, TWF2, WDR82
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6369827
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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