A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839263



Internal ID22022906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92030955..92030955hg38UCSC Ensembl
chr8:93043183..93043183hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246315
Supporting Variants
Samples
Known GenesRUNX1T1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839263
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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