A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196943



Internal ID22346878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28880308..28880677hg38UCSC Ensembl
chr1:29206820..29207189hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv159n152
Supporting Variantsnssv14359154, nssv14359152, nssv14359150, nssv14359151, nssv14359153, nssv14359149
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196943
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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