A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444557



Internal ID22110737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148849005..148849323hg38UCSC Ensembl
chr3:148566792..148567110hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756804
Samples
Known GenesCPB1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444557
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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