A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850284



Internal ID22033927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118845049..118845049hg38UCSC Ensembl
chr2:119602625..119602625hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252914
Supporting Variants
Samples
Known GenesEN1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850284
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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