A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213705



Internal ID22360570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128478452..128478669hg38UCSC Ensembl
chr7:128118506..128118723hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8746n152
Supporting Variantsnssv14338199, nssv14338197, nssv14338196, nssv14338198
SamplesNA19239, HG00731, NA19240, HG00733
Known GenesMETTL2B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213705
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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