A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849992



Internal ID22033635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42261414..42261414hg38UCSC Ensembl
chr20:40890054..40890054hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251448
Supporting Variants
Samples
Known GenesPTPRT
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849992
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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