A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389043



Internal ID22210924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8902938..8942698hg38UCSC Ensembl
chr17:8806255..8846015hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3839761
hg1939761
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216177
Supporting Variants
SamplesHG00732
Known GenesPIK3R5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389043
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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