A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276848



Internal ID22198724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:197523757..197540793hg38UCSC Ensembl
Outerchr1:197492887..197509923hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3817037
hg1917037
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204048
Supporting Variants
SamplesHG00732
Known GenesDENND1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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