A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928204



Internal ID19500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218274039..218274220hg38UCSC Ensembl
chr2:219138762..219138943hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446682
Supporting Variants
Samples
Known GenesPNKD, TMBIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928204
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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