A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506394



Internal ID283143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42496674..42496981hg38UCSC Ensembl
chr12:42890476..42890783hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055280
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506394
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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