A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850920



Internal ID22034563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120300283..120300283hg38UCSC Ensembl
chr2:121057859..121057859hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243109
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850920
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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