A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183194



Internal ID22337491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170950159..170950402hg38UCSC Ensembl
chr2:171806669..171806912hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448462
SamplesHG00733
Known GenesGORASP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3183194
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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