A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171708



Internal ID22331427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101899964..101900186hg38UCSC Ensembl
chr2:102516426..102516648hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448419
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)nsv3171708
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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