A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406841



Internal ID22327854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76392885..76394807hg38UCSC Ensembl
chr18:74104841..74106763hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229911
Supporting Variants
SamplesNA19240
Known GenesZNF516
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406841
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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