A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084958



Internal ID20651998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203718097..203718595hg38UCSC Ensembl
chr2:204582820..204583318hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347305
Supporting Variants
Samples
Known GenesCD28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084958
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00047


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