A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925646



Internal ID17852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224974679..224974819hg38UCSC Ensembl
chr2:225839396..225839536hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436281
Supporting Variants
Samples
Known GenesDOCK10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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