A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181809



Internal ID22336767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200580023..200580171hg38UCSC Ensembl
chr2:201444746..201444894hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447706
SamplesHG00733
Known GenesSGOL2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181809
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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