A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925897



Internal ID18017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216462812..216462864hg38UCSC Ensembl
chr2:217327535..217327587hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435596
Supporting Variants
Samples
Known GenesSMARCAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925897
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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