A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18249231



Internal ID20816271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113861385..113862135hg38UCSC Ensembl
chr1:114404007..114404757hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38751
hg19751
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6537659
Supporting Variants
Samples
Known GenesAP4B1-AS1, PTPN22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18249231
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00014


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