A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339848



Internal ID20997401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227630968..227791300hg38UCSC Ensembl
chr2:228495684..228656016hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38160333
hg19160333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206150
Samples
Known GenesC2orf83, SLC19A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339848
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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