A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297390



Internal ID22276373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179850157..179850274hg38UCSC Ensembl
chr1:179819292..179819409hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558943
Supporting Variants
SamplesNA19239
Known GenesTOR1AIP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297390
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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