A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187651



Internal ID22339844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143337623..143337817hg38UCSC Ensembl
chr5:142717188..142717382hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424718
SamplesHG00514
Known GenesNR3C1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187651
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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