A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536681



Internal ID312112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109859650..109859691hg38UCSC Ensembl
chr12:110297455..110297496hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684389
Samples
Known GenesGLTP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536681
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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