A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947502



Internal ID32370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1940893..1940947hg38UCSC Ensembl
chr4:1942620..1942674hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435348
Supporting Variants
Samples
Known GenesWHSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947502
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002498


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