A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512999



Internal ID289535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94405554..94408288hg38UCSC Ensembl
chr13:95057808..95060542hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694456
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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