A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176863



Internal ID22334101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55744303..55745395hg38UCSC Ensembl
chr8:56656862..56657954hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381093
hg191093
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9182n152
Supporting Variantsnssv14429598
SamplesHG00514
Known GenesTMEM68
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3176863
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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