A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528180



Internal ID22397565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7199806..7199900hg38UCSC Ensembl
chr12:7352402..7352496hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1705n152
Supporting Variantsnssv14362674, nssv14362670, nssv14362673, nssv14362669, nssv14362671, nssv14362675, nssv14362672
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesPEX5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528180
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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