A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455083



Internal ID22129344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227492259..227500523hg38UCSC Ensembl
chr1:227679960..227688224hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg388265
hg198265
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3549652
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455083
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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