A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968770



Internal ID46504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87302528..87302578hg38UCSC Ensembl
chr5:86598345..86598395hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538483
Supporting Variants
Samples
Known GenesRASA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968770
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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