A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5910130



Internal ID22685340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67055532..67055703hg38UCSC Ensembl
chr8:67967767..67967938hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17434177
Samples
Known GenesCOPS5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5910130
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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