A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848465



Internal ID22032108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39083719..39083719hg38UCSC Ensembl
chr17:37239972..37239972hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250784
Supporting Variants
Samples
Known GenesPLXDC1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848465
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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