A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301898



Internal ID22203472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197531383..197534139hg38UCSC Ensembl
chr1:197500513..197503269hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195100
Supporting Variants
SamplesHG00732
Known GenesDENND1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301898
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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