A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916075



Internal ID11433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71270341..71438620hg38UCSC Ensembl
chr2:71497471..71665750hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38168280
hg19168280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447121
Supporting Variants
Samples
Known GenesZNF638
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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