A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178649



Internal ID22335120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68448768..68453060hg38UCSC Ensembl
chr2:68675900..68680192hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384293
hg194293
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4620n152
Supporting Variantsnssv14433381, nssv14433382
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)nsv3178649
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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