A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561943



Internal ID22430709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232312112..232312112hg38UCSC Ensembl
chr1:232447858..232447858hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313197, nssv14313198, nssv14313194, nssv14313192, nssv14313196, nssv14313191, nssv14313195, nssv14313193, nssv14313199
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)nsv3561943
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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