A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497557



Internal ID274587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79355804..79355872hg38UCSC Ensembl
chr12:79749584..79749652hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689390
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497557
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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