A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973633



Internal ID22748568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39380697..39382516hg38UCSC Ensembl
chr21:40752623..40754442hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381820
hg191820
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395427
Samples
Known GenesWRB
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973633
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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