A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14431247



Internal ID22173703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109250571..109250962hg38UCSC Ensembl
chr1:109793193..109793584hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186664
Supporting Variants
SamplesHG00514
Known GenesCELSR2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14431247
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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