A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4436975



Internal ID22103152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109311559..109311559hg38UCSC Ensembl
chr8:110323788..110323788hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759306
Samples
Known GenesNUDCD1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4436975
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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