A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976002



Internal ID51402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160200575..160204723hg38UCSC Ensembl
chr5:159627582..159631730hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384149
hg194149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454748
Supporting Variants
Samples
Known GenesFABP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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