A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204455



Internal ID22353303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:90405610..90408837hg38UCSC Ensembl
chr7:90034924..90038151hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg383228
hg193228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14336026, nssv14336028, nssv14336027, nssv14336024, nssv14336023, nssv14336031, nssv14336030, nssv14336025, nssv14336029
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCLDN12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204455
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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