A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506320



Internal ID283069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125006049..125007359hg38UCSC Ensembl
chr12:125490595..125491905hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685131
Samples
Known GenesBRI3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506320
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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