A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393872



Internal ID22451742
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 StatusS
Merged Variantsnsv5970490
Supporting Variants
Samples
Known GenesAGXT, C2orf54, KIF1A, LOC200772, SNED1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393872
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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