A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448480



Internal ID22243931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176852797..176852871hg38UCSC Ensembl
chr2:177717525..177717599hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184836
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448480
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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