A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390469



Internal ID22305487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223347734..223349400hg38UCSC Ensembl
chr1:223521076..223522742hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381667
hg191667
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3172575
Supporting Variants
SamplesNA19240
Known GenesSUSD4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390469
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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