A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502269



Internal ID279142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94333952..94334526hg38UCSC Ensembl
chr13:94986206..94986780hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694453
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502269
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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