A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950639



Internal ID34445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70690252..70690326hg38UCSC Ensembl
chr4:71555969..71556043hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141105
Supporting Variants
Samples
Known GenesUTP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950639
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004876


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