A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257933



Internal ID22200944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10399090..10426419hg38UCSC Ensembl
Outerchr1:10459147..10486476hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3827330
hg1927330
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200426
Supporting Variants
SamplesHG00732
Known GenesPGD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257933
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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