A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247377



Internal ID22376695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52215009..52595850hg38UCSC Ensembl
chr13:52789144..53169985hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38380842
hg19380842
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466984
SamplesNA19238
Known GenesCKAP2, THSD1, TPTE2P3, VPS36
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247377
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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