A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181731



Internal ID22336725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234644599..234650617hg38UCSC Ensembl
chr2:235553243..235559261hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5055n152
Supporting Variantsnssv14432646, nssv14432647
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)nsv3181731
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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