A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461286



Internal ID22213866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115686863..115690220hg38UCSC Ensembl
chr1:116229484..116232841hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383358
hg193358
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184325
Supporting Variants
SamplesHG00733
Known GenesVANGL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461286
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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