A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970490



Internal ID22745425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240811836..241011847hg38UCSC Ensembl
chr2:241751253..241951264hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38200012
hg19200012
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393872
Samples
Known GenesAGXT, C2orf54, KIF1A, LOC200772, SNED1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970490
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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