A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323170



Internal ID20856286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89656317..89870408hg38UCSC Ensembl
chr1:90121876..90335967hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38214092
hg19214092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205220
Samples
Known GenesLRRC8C, LRRC8D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323170
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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