A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6070989



Internal ID21980222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129494893..129494893hg38UCSC Ensembl
chr6:129816038..129816038hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17564286
Samples
Known GenesLAMA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6070989
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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