A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200261



Internal ID22349740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231820031..231874626hg38UCSC Ensembl
chr2:232684741..232739336hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3854596
hg1954596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5036n152
Supporting Variantsnssv14433895
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)nsv3200261
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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