A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851785



Internal ID22035428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31130756..31130756hg38UCSC Ensembl
chr22:31526742..31526742hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252076
Supporting Variants
Samples
Known GenesINPP5J
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851785
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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