A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259616



Internal ID22201500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:215386176..215442072hg38UCSC Ensembl
Outerchr1:215559519..215615415hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3855897
hg1955897
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207007
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259616
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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