A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445173



Internal ID22111353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48331683..48334597hg38UCSC Ensembl
chr12:48725466..48728380hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382915
hg192915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761443
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445173
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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