A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852274



Internal ID22035917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42848353..42848353hg38UCSC Ensembl
chr1:43314024..43314024hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252759
Supporting Variants
Samples
Known GenesZNF691
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852274
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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