A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953168



Internal ID36128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80623781..81630256hg38UCSC Ensembl
chr4:81544935..82551410hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg381006476
hg191006476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141003
Supporting Variants
Samples
Known GenesBMP3, C4orf22, PRKG2, RASGEF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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