A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254914



Internal ID22199961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:199464275..199481926hg38UCSC Ensembl
Outerchr1:199433403..199451054hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3817652
hg1917652
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193528
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254914
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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