A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553127



Internal ID326406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49100926..49100926hg38UCSC Ensembl
chr12:49494709..49494709hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058234
Samples
Known GenesLMBR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553127
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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