A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685125



Internal ID108791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124948788..124948868hg38UCSC Ensembl
chr12:125433334..125433414hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508368
Supporting Variants
Samples
Known GenesDHX37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685125
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.677955


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