A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853930



Internal ID22037573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178419014..178419014hg38UCSC Ensembl
chr2:179283741..179283741hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243519
Supporting Variants
Samples
Known GenesMIR548N
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853930
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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