A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446298



Internal ID22225038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31430759..31434139hg38UCSC Ensembl
chr1:31903606..31906986hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg383381
hg193381
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178252
Supporting Variants
SamplesHG00733
Known GenesSERINC2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446298
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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