A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312533



Internal ID22222428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230315784..230316050hg38UCSC Ensembl
chr1:230451530..230451796hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525904
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312533
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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