A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847788



Internal ID22031431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19998360..19998360hg38UCSC Ensembl
chr2:20198121..20198121hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242227
Supporting Variants
Samples
Known GenesMATN3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847788
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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