A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280265



Internal ID22130775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9767941..9826491hg38UCSC Ensembl
Outerchr1:9827999..9886549hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3858551
hg1958551
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200105
Supporting Variants
SamplesHG00513
Known GenesCLSTN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280265
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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