A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968653



Internal ID22743588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86515467..86516019hg38UCSC Ensembl
chr2:86742590..86743142hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401355
Samples
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968653
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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