A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561198



Internal ID334184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49983477..50075365hg38UCSC Ensembl
chr6:49951190..50043078hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3891889
hg1991889
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984890
Samples
Known GenesDEFB110, DEFB112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561198
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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