A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448737



Internal ID22114914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78984900..78984900hg38UCSC Ensembl
chr5:78280723..78280723hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757321
Samples
Known GenesARSB
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448737
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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