A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205603



Internal ID20772643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159006610..160173042hg38UCSC Ensembl
chr2:159863122..161029553hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381166433
hg191166432
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346772
Supporting Variants
Samples
Known GenesBAZ2B, CD302, ITGB6, LY75, LY75-CD302, MARCH7, MIR6888, PLA2R1, TANC1, WDSUB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205603
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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