A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966439



Internal ID44948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41859903..41859921hg38UCSC Ensembl
chr5:41860005..41860023hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545218
Supporting Variants
Samples
Known GenesOXCT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966439
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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