A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384992



Internal ID22298086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180859063..180859114hg38UCSC Ensembl
chr1:180828199..180828250hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188021
Supporting Variants
SamplesNA19240
Known GenesXPR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384992
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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