A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191896



Internal ID22342545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86134238..86165231hg38UCSC Ensembl
chr1:86599921..86630914hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3830994
hg1930994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14373281, nssv14389041, nssv14375754, nssv14384858, nssv14376355, nssv14383814
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00514
Known GenesCOL24A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191896
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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