A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18104176



Internal ID20671216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:87249501..87251800hg38UCSC Ensembl
chr3:87298651..87300950hg19UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6359702
Supporting Variants
Samples
Known GenesCHMP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18104176
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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