A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448443



Internal ID22114620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358345..78358345hg38UCSC Ensembl
chr5:77654169..77654169hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758920
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448443
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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