A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407518



Internal ID22309524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18912995..18913083hg38UCSC Ensembl
chr2:19094261..19094349hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202845
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14407518
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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