A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441856



Internal ID220306
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 StatusM
Merged Variants
Supporting Variantsnssv16918115
Samples
Known GenesSCTR, TMEM37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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