A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406059



Internal ID22328481
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 StatusS
Merged Variantsnsv3212976
Supporting Variants
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)nssv14406059
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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