A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187797



Internal ID22339915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56714313..56714372hg38UCSC Ensembl
chr2:56941448..56941507hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392955
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187797
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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