A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282590



Internal ID22330118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71928524..71928596hg38UCSC Ensembl
chr17:69924665..69924737hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528202
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282590
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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