A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292220



Internal ID22159860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32212613..32346604hg38UCSC Ensembl
chr2:32437682..32571672hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38133992
hg19133991
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249740
Supporting Variants
SamplesHG00514
Known GenesNLRC4, SLC30A6, YIPF4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292220
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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