A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440682



Internal ID22237172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168850169..168850272hg38UCSC Ensembl
chr1:168819407..168819510hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187472
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440682
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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