A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465948



Internal ID22116676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12430507..12433398hg38UCSC Ensembl
chr6:12430739..12433630hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg382892
hg192892
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550609
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14465948
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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