A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390379



Internal ID22293589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10960142..10960214hg38UCSC Ensembl
chr1:11020199..11020271hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180620
Supporting Variants
SamplesNA19240
Known GenesC1orf127
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390379
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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