A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6257180



Internal ID22061790
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 StatusM
Merged Variants
Supporting Variantsnssv17859601
Samples
Known GenesLAMA2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6257180
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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