A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250383



Internal ID22054993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67312772..67312772hg38UCSC Ensembl
chr16:67346675..67346675hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847717
Samples
Known GenesKCTD19
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250383
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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