A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396189



Internal ID175609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87301477..87301528hg38UCSC Ensembl
chr5:86597294..86597345hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968769
Samples
Known GenesRASA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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