A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407852



Internal ID22322512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224195599..224195876hg38UCSC Ensembl
chr1:224383301..224383578hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201210
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)nssv14407852
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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