A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174705



Internal ID22332961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40834503..40834569hg38UCSC Ensembl
chr2:41061643..41061709hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421193
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3174705
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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