A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6516768



Internal ID20890129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50682206..50683267hg38UCSC Ensembl
chr18:48208576..48209637hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18042204
Samples
Known GenesMAPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6516768
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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