A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055280



Internal ID104689
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 StatusS
Merged Variantsnsv5506394
Supporting Variants
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055280
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001717


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