A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462487



Internal ID22215038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109030609..109032557hg38UCSC Ensembl
chr1:109573231..109575179hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381949
hg191949
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185147
Supporting Variants
SamplesHG00733
Known GenesWDR47
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14462487
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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