A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941210



Internal ID22716630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78232691..78232741hg38UCSC Ensembl
chr17:76228772..76228822hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380404
Samples
Known GenesTMEM235
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941210
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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