A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462003



Internal ID239942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80487852..80488634hg38UCSC Ensembl
chr5:79783671..79784453hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967016
Samples
Known GenesFAM151B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462003
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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