A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18077617



Internal ID20644657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134693238..134696584hg38UCSC Ensembl
chr2:135450808..135454154hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg383347
hg193347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349213
Supporting Variants
Samples
Known GenesTMEM163
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18077617
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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