A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466374



Internal ID22116712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21567330..22701560hg38UCSC Ensembl
chr16:21578651..22712881hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381134231
hg191134231
Variant TypeOTHER inversion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551651
Supporting Variants
SamplesHG00512
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC653786, METTL9, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466374
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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