A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968772



Internal ID46505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87313159..87321244hg38UCSC Ensembl
chr5:86608976..86617061hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg388086
hg198086
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469062
Supporting Variants
Samples
Known GenesRASA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968772
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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