A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850347



Internal ID22033990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2749418..2749418hg38UCSC Ensembl
chr20:2730064..2730064hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251178
Supporting Variants
Samples
Known GenesEBF4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850347
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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