A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853452



Internal ID22037095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238181487..238181487hg38UCSC Ensembl
chr2:239090128..239090128hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253555
Supporting Variants
Samples
Known GenesILKAP
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853452
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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