A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548329



Internal ID22417286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128959877..128963502hg38UCSC Ensembl
chr6:129281022..129284647hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg383626
hg193626
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466676, nssv14466163
SamplesNA19239, NA19240
Known GenesLAMA2
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548329
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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