A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442603



Internal ID22108786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13855191..13855506hg38UCSC Ensembl
chr5:13855300..13855615hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768446
Samples
Known GenesDNAH5
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442603
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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