A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408570



Internal ID22307213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2797101..2807550hg38UCSC Ensembl
chr1:2713666..2724115hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3810450
hg1910450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194147
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408570
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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