A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854400



Internal ID22038043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66955364..66955364hg38UCSC Ensembl
chr1:67421047..67421047hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6254465
Supporting Variants
Samples
Known GenesMIER1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854400
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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