A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440393



Internal ID22106571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178505573..178505637hg38UCSC Ensembl
chr1:178474708..178474772hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765660
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440393
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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