A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442087



Internal ID22108270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69515209..69515496hg38UCSC Ensembl
chr5:68811036..68811323hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761027
Samples
Known GenesOCLN
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442087
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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