A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953913



Internal ID36614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:114521000..114663381hg38UCSC Ensembl
chr4:115442156..115584537hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38142382
hg19142382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454367
Supporting Variants
Samples
Known GenesMIR577, UGT8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953913
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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