A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053078



Internal ID103232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10923304..10924153hg38UCSC Ensembl
chr12:11075903..11076752hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503641
Supporting Variants
Samples
Known GenesPRH1-PRR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053078
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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