A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690751



Internal ID114417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122702594..122716849hg38UCSC Ensembl
chr12:123187141..123201396hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3814256
hg1914256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512317
Supporting Variants
Samples
Known GenesHCAR2, HCAR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690751
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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