A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397448



Internal ID176854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35735480..35735531hg38UCSC Ensembl
chr5:35735582..35735633hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963376
Samples
Known GenesSPEF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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