A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410255



Internal ID189572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71720418..71720469hg38UCSC Ensembl
chr5:71016245..71016296hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967471
Samples
Known GenesCARTPT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410255
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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