A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18251003



Internal ID20818043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43593431..43594442hg38UCSC Ensembl
chr1:44059102..44060113hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381012
hg191012
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6545292
Supporting Variants
Samples
Known GenesPTPRF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18251003
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.4539


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