A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329114



Internal ID22172930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53409086..53409513hg38UCSC Ensembl
chr6:53273884..53274311hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204677
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329114
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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