A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382565



Internal ID22440435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48586610..48597683hg38UCSC Ensembl
chr16:48620521..48631594hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3811074
hg1911074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928898
Supporting Variants
Samples
Known GenesN4BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382565
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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