A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174748



Internal ID22332987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55696686..55696736hg38UCSC Ensembl
chr5:54992514..54992564hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7343n152
Supporting Variantsnssv14425678
SamplesHG00514
Known GenesSLC38A9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3174748
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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