A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505134



Internal ID281916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93615647..93617156hg38UCSC Ensembl
chr13:94267900..94269409hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381510
hg191510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691212
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505134
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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