A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190268



Internal ID22341188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101019217..101019760hg38UCSC Ensembl
chr2:101635679..101636222hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448416
SamplesHG00733
Known GenesRPL31, TBC1D8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190268
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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