A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16951947



Internal ID35320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:95840137..95840219hg38UCSC Ensembl
chr4:96761288..96761370hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456211
Supporting Variants
Samples
Known GenesPDHA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16951947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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