A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448442



Internal ID22114619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77994689..77994689hg38UCSC Ensembl
chr5:77290513..77290513hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760534
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448442
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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