A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246212



Internal ID22050822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80629072..80629072hg38UCSC Ensembl
chr8:81541307..81541307hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839936
Samples
Known GenesZNF704
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246212
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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