A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17838427



Internal ID22022070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134665673..134665673hg38UCSC Ensembl
chr7:134350425..134350425hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6239774
Supporting Variants
Samples
Known GenesBPGM
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17838427
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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