A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377005



Internal ID22291960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169495172..169495257hg38UCSC Ensembl
chr1:169464410..169464495hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170888
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)nssv14377005
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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