A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246138



Internal ID22050748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73256853..73256853hg38UCSC Ensembl
chr8:74169088..74169088hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840614
Samples
Known GenesLOC100130301
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246138
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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