A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924234



Internal ID16923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134649618..134656300hg38UCSC Ensembl
chr2:135407188..135413870hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg386683
hg196683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139694
Supporting Variants
Samples
Known GenesTMEM163
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924234
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.054493


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