A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179991



Internal ID22335849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233721218..233721660hg38UCSC Ensembl
chr1:233856964..233857406hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413321
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3179991
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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