A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399858



Internal ID179244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157312283..157312334hg38UCSC Ensembl
chr5:156739291..156739342hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975941
Samples
Known GenesCYFIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399858
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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