A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250883



Internal ID22055493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55085577..55085577hg38UCSC Ensembl
chr17:53162938..53162938hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848863
Samples
Known GenesSTXBP4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250883
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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