A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366659



Internal ID22592328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122696937..122710367hg38UCSC Ensembl
chr12:123181484..123194914hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813431
hg1913431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945242
Supporting Variants
Samples
Known GenesHCAR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366659
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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