A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392397



Internal ID22450267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227376383..227393656hg38UCSC Ensembl
chr2:228241099..228258372hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3817274
hg1917274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903907
Supporting Variants
Samples
Known GenesTM4SF20
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392397
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.026


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