A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448478



Internal ID22114655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179522823..179522823hg38UCSC Ensembl
chr1:179491958..179491958hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760624
Samples
Known GenesAXDND1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448478
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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