A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385416



Internal ID22443286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87674800..87683343hg38UCSC Ensembl
chr16:87708406..87716949hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg388544
hg198544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5938081
Supporting Variants
Samples
Known GenesJPH3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385416
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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