A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6572273



Internal ID20945344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49983478..50075366hg38UCSC Ensembl
chr6:49951191..50043079hg19UCSC 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 Variantsnssv18272042
Samples
Known GenesDEFB110, DEFB112
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6572273
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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