A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849657



Internal ID22033300
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 StatusS
Merged Variantsnsv6259187
Supporting Variants
Samples
Known GenesPTPRM
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849657
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer