A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198082



Internal ID22347860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2797101..2807550hg38UCSC Ensembl
chr1:2713666..2724115hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3810450
hg1910450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n152
Supporting Variantsnssv14370997, nssv14371002, nssv14371003, nssv14371000, nssv14371001, nssv14371004, nssv14371005, nssv14370999, nssv14370998
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198082
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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