A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975749



Internal ID22750684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33249339..33250557hg38UCSC Ensembl
chr21:34621644..34622862hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409094
Samples
Known GenesIFNAR2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975749
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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