A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447706



Internal ID22243266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200580023..200580171hg38UCSC Ensembl
chr2:201444746..201444894hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181809
Supporting Variants
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)nssv14447706
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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