A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193373



Internal ID22343827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166585488..166586678hg38UCSC Ensembl
chr6:166998976..167000166hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381191
hg191191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8213n152
Supporting Variantsnssv14379126
SamplesNA19240
Known GenesRPS6KA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193373
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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