A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14338404



Internal ID22205468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117865154..117867170hg38UCSC Ensembl
chr7:117505208..117507224hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg382017
hg192017
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224504
Supporting Variants
SamplesHG00732
Known GenesCTTNBP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14338404
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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