A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16949999



Internal ID34012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47965606..47978114hg38UCSC Ensembl
chr4:47967623..47980131hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3812509
hg1912509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456756
Supporting Variants
Samples
Known GenesCNGA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16949999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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