A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212976



Internal ID22360062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33096293..33096349hg38UCSC Ensembl
chr18:30676257..30676313hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3811n152
Supporting Variantsnssv14406059
SamplesNA19240
Known GenesCCDC178
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212976
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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