A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448736



Internal ID22114913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78818168..78818168hg38UCSC Ensembl
chr5:78113991..78113991hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766028
Samples
Known GenesARSB
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448736
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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