A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304781



Internal ID22187732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202090031..202090413hg38UCSC Ensembl
chr1:202059159..202059541hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206075
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304781
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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