A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542162



Internal ID316607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113302922..113302972hg38UCSC Ensembl
chr12:113740727..113740777hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684568
Samples
Known GenesSLC8B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542162
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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