A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198887



Internal ID22348558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156180523..156180890hg38UCSC Ensembl
chr1:156150314..156150681hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv431n152
Supporting Variantsnssv14289444, nssv14289447, nssv14289446, nssv14289445
SamplesHG00731, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198887
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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