A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560513



Internal ID333520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108640149..109466577hg38UCSC Ensembl
chr4:109561305..110387733hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38826429
hg19826429
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955528
Samples
Known GenesCOL25A1, ETNPPL, OSTC, SEC24B, SEC24B-AS1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560513
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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