A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314959



Internal ID22133329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231844792..231846088hg38UCSC Ensembl
chr1:231980538..231981834hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196023
Supporting Variants
SamplesHG00513
Known GenesDISC1, TSNAX-DISC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14314959
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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