A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18077594



Internal ID20644634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134274701..134352100hg38UCSC Ensembl
chr2:135032272..135109671hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3877400
hg1977400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353966
Supporting Variants
Samples
Known GenesMGAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18077594
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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