A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451815



Internal ID22509687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29246816..29251206hg38UCSC Ensembl
chr1:29573328..29577718hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg384391
hg194391
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829685
Supporting Variants
Samples
Known GenesPTPRU
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451815
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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