A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183682



Internal ID22337754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119724710..119725011hg38UCSC Ensembl
chr1:120267333..120267634hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413666
SamplesHG00514
Known GenesPHGDH
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3183682
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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