A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548255



Internal ID22417213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54231737..54316407hg38UCSC Ensembl
chr7:54299430..54384100hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3884671
hg1984671
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459165, nssv14463952, nssv14458241, nssv14455577, nssv14462193, nssv14464135, nssv14461558
SamplesNA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548255
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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