A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246347



Internal ID22050957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95268659..95268659hg38UCSC Ensembl
chr8:96280887..96280887hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840130
Samples
Known GenesC8orf37
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246347
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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