A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921211



Internal ID14919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179200687..179216868hg38UCSC Ensembl
chr2:180065414..180081595hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3816182
hg1916182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139167
Supporting Variants
Samples
Known GenesSESTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921211
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.304809


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