A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918115



Internal ID12830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119391683..119531219hg38UCSC Ensembl
chr2:120149259..120288795hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38139537
hg19139537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441856
Supporting Variants
Samples
Known GenesSCTR, TMEM37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918115
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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