A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281574



Internal ID22263124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218868545..218883212hg38UCSC Ensembl
Outerchr1:219041887..219056554hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3814668
hg1914668
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199658
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281574
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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