A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172608



Internal ID22331892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:105571333..105573584hg38UCSC Ensembl
chr1:106113955..106116206hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg382252
hg192252
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv357n152
Supporting Variantsnssv14413866
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)nsv3172608
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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