A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444809



Internal ID22110989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243327259..243327259hg38UCSC Ensembl
chr1:243490561..243490561hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762521
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444809
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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