A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246577



Internal ID22051187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119239986..119239986hg38UCSC Ensembl
chr8:120252226..120252226hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840054
Samples
Known GenesMAL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246577
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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