A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392067



Internal ID22129329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63993240..63994918hg38UCSC Ensembl
chr17:62070600..62072278hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg381679
hg191679
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226306
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392067
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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