A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853949



Internal ID22037592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180383993..180383993hg38UCSC Ensembl
chr2:181248720..181248720hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243540
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853949
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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