A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859601



Internal ID22043244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129325391..129325391hg38UCSC Ensembl
chr6:129646536..129646536hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6257180
Supporting Variants
Samples
Known GenesLAMA2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859601
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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