A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854654



Internal ID22038297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147972553..147972553hg38UCSC Ensembl
chr4:148893704..148893704hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6255489
Supporting Variants
Samples
Known GenesARHGAP10
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854654
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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