A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321596



Internal ID22275741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55433277..55433562hg38UCSC Ensembl
chr5:54729105..54729390hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525925
Supporting Variants
SamplesNA19239
Known GenesPPAP2A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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