A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513026



Internal ID289560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49099524..49107956hg38UCSC Ensembl
chr12:49493307..49501739hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg388433
hg198433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058232
Samples
Known GenesLMBR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513026
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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