A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917624



Internal ID12488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119935460..119935511hg38UCSC Ensembl
chr2:120693036..120693087hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403550
Supporting Variants
Samples
Known GenesPTPN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917624
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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