A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14336031



Internal ID22293559
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 Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204455
Supporting Variants
SamplesNA19240
Known GenesCLDN12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14336031
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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