A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261307



Internal ID22256843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84049421..84062167hg38UCSC Ensembl
Outerchr1:84515104..84527850hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812747
hg1912747
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204700
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261307
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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