A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427011



Internal ID22167657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157266134..157266134hg38UCSC Ensembl
chr6:157613499..157613499hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3836111
hg1936111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533024
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14427011
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer