A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193260



Internal ID22343728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:419392..420103hg38UCSC Ensembl
chr7:459358..460069hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8314n152
Supporting Variantsnssv14332892, nssv14332891, nssv14332888, nssv14332885, nssv14332889, nssv14332887, nssv14332886, nssv14332890
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193260
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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