A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309191



Internal ID22200241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224191344..224191658hg38UCSC Ensembl
chr1:224379046..224379360hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204692
Supporting Variants
SamplesHG00732
Known GenesDEGS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309191
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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