A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204692



Internal ID22353501
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309194, nssv14309192, nssv14309191, nssv14309193
SamplesNA19238, NA19239, HG00732, HG00733
Known GenesDEGS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204692
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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