A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504960



Internal ID281751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104760161..104760237hg38UCSC Ensembl
chr12:105153939..105154015hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690540
Samples
Known GenesCHST11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504960
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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