A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224504



Internal ID22367920
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338400, nssv14338407, nssv14338402, nssv14338408, nssv14338403, nssv14338406, nssv14338401, nssv14338404, nssv14338405
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCTTNBP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224504
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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