A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843696



Internal ID22027339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127915754..127915754hg38UCSC Ensembl
chr10:129714018..129714018hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6247649
Supporting Variants
Samples
Known GenesPTPRE
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843696
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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