A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509667



Internal ID286315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6914476..6914795hg38UCSC Ensembl
chr12:7023640..7023959hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055064
Samples
Known GenesENO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509667
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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