A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466630



Internal ID22225643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6616678..6616923hg38UCSC Ensembl
chr5:6616791..6617036hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3182561
Supporting Variants
SamplesHG00733
Known GenesNSUN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466630
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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