A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388617



Internal ID22446487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23202393..23205867hg38UCSC Ensembl
chr16:23213714..23217188hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg383475
hg193475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934562
Supporting Variants
Samples
Known GenesSCNN1G
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388617
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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