A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526081



Internal ID22395461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81514046..81514167hg38UCSC Ensembl
chr1:81979731..81979852hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375191, nssv14386942, nssv14388807, nssv14374885, nssv14385767, nssv14387924
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526081
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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