A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292971



Internal ID22283606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117752048..117766102hg38UCSC Ensembl
chr2:118509624..118523678hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3814055
hg1914055
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249365
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292971
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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