A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503744



Internal ID280560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93603698..93615747hg38UCSC Ensembl
chr13:94255951..94268000hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3812050
hg1912050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691211
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503744
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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