A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437147



Internal ID22103325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:115475989..115476318hg38UCSC Ensembl
chr8:116488216..116488545hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759307
Samples
Known GenesTRPS1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437147
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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