A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250888



Internal ID22055498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55501716..55501716hg38UCSC Ensembl
chr17:53579077..53579077hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848868
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250888
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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