A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17838485



Internal ID22022128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42112642..42112642hg38UCSC Ensembl
chr7:42152241..42152241hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6239349
Supporting Variants
Samples
Known GenesGLI3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17838485
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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