A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259187



Internal ID22063797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8136894..8136894hg38UCSC Ensembl
chr18:8136892..8136892hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849657
Samples
Known GenesPTPRM
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259187
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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