A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181477



Internal ID22336591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208162916..208163123hg38UCSC Ensembl
chr1:208336261..208336468hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441153
SamplesHG00733
Known GenesPLXNA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181477
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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