A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513051



Internal ID289584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71520621..71529000hg38UCSC Ensembl
chr12:71914401..71922780hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg388380
hg198380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688983
Samples
Known GenesLGR5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513051
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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