A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341818



Internal ID20999371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223953274..223968419hg38UCSC Ensembl
chr2:224817991..224833136hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3815146
hg1915146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083741
Samples
Known GenesMRPL44
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341818
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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