A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399860



Internal ID22312761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132302587..132302737hg38UCSC Ensembl
chr5:131638280..131638430hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181187
Supporting Variants
SamplesNA19240
Known GenesSLC22A4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399860
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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