A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174940



Internal ID22333083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61213320..61217664hg38UCSC Ensembl
chr8:62125879..62130223hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg384345
hg194345
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9195n152
Supporting Variantsnssv14429617
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)nsv3174940
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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