A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390902



Internal ID22448772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227553432..227553502hg38UCSC Ensembl
chr2:228418148..228418218hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894278
Supporting Variants
Samples
Known GenesAGFG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390902
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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