A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512697



Internal ID289246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92398164..92398444hg38UCSC Ensembl
chr13:93050417..93050697hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694024
Samples
Known GenesGPC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512697
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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