A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449350



Internal ID22115527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132208423..132208423hg38UCSC Ensembl
chr5:131544116..131544116hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760120
Samples
Known GenesP4HA2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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