A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433441



Internal ID22176372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197924905..197925185hg38UCSC Ensembl
chr1:197894035..197894315hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184743
Supporting Variants
SamplesHG00514
Known GenesLHX9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14433441
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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