A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246004



Internal ID22050614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54432304..54432304hg38UCSC Ensembl
chr8:55344864..55344864hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839620
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246004
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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