A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339222



Internal ID20996775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227666845..227728380hg38UCSC Ensembl
chr2:228531561..228593096hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3861536
hg1961536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087072
Samples
Known GenesSLC19A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339222
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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