A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495363



Internal ID272480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102848575..102849545hg38UCSC Ensembl
chr13:103500925..103501895hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38971
hg19971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692242
Samples
Known GenesBIVM-ERCC5, ERCC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495363
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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