A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181905



Internal ID22336810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237331746..237331806hg38UCSC Ensembl
chr2:238240389..238240449hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406616
SamplesNA19240
Known GenesCOL6A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181905
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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