A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386637



Internal ID22260717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8885429..8885495hg38UCSC Ensembl
chr17:8788746..8788812hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224390
Supporting Variants
SamplesNA19238
Known GenesPIK3R5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386637
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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