A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280119



Internal ID22291998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218243680..218256720hg38UCSC Ensembl
Outerchr1:218417022..218430062hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3813041
hg1913041
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207195
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280119
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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