A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6544350



Internal ID20917590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199439808..199440944hg38UCSC Ensembl
chr2:200304531..200305667hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381137
hg191137
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256030
Samples
Known GenesSATB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6544350
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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