A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349213



Internal ID21006766
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 StatusM
Merged Variants
Supporting Variantsnssv18077617
Samples
Known GenesTMEM163
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349213
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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