A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387619



Internal ID22445489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2316045..2316372hg38UCSC Ensembl
chr16:2366046..2366373hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943879
Supporting Variants
Samples
Known GenesABCA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387619
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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