A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459149



Internal ID22252895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55696686..55696737hg38UCSC Ensembl
chr5:54992514..54992565hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170371
Supporting Variants
SamplesHG00733
Known GenesSLC38A9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14459149
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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