A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443196



Internal ID22109380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5279680..5279680hg38UCSC Ensembl
chr5:5279793..5279793hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765761
Samples
Known GenesADAMTS16
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443196
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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