A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171776



Internal ID22331468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189841823..189841911hg38UCSC Ensembl
chr2:190706549..190706637hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394970, nssv14448520, nssv14421257
SamplesNA19240, HG00733, HG00514
Known GenesPMS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171776
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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