A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953307



Internal ID36220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:100528971..101052597hg38UCSC Ensembl
chr4:101450128..101973754hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38523627
hg19523627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462161
Supporting Variants
Samples
Known GenesEMCN-IT3, PPP3CA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953307
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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