A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341478



Internal ID20999031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227582101..227627100hg38UCSC Ensembl
chr2:228446817..228491816hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3845000
hg1945000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4299n223
Supporting Variantsnssv18206147
Samples
Known GenesC2orf83
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341478
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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