A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361253



Internal ID22285074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66526869..66564945hg38UCSC Ensembl
chr12:66920649..66958725hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3838077
hg1938077
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234292
Supporting Variants
SamplesNA19239
Known GenesGRIP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361253
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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