A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207688



Internal ID22356039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151664899..151667825hg38UCSC Ensembl
chr1:151637375..151640301hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382927
hg192927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286514, nssv14286512, nssv14286513
SamplesHG00512, HG00513, HG00514
Known GenesSNX27
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207688
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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