A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923364



Internal ID16344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196126397..196161166hg38UCSC Ensembl
chr2:196991121..197025890hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3834770
hg1934770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439345
Supporting Variants
Samples
Known GenesSTK17B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923364
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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