A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447565



Internal ID22113742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104947174..104947174hg38UCSC Ensembl
chr2:105563632..105563632hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757725
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447565
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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