A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199870



Internal ID22349399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47362785..47363003hg38UCSC Ensembl
chr7:47402383..47402601hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14333583, nssv14333581, nssv14333582
SamplesHG00512, HG00513, HG00514
Known GenesTNS3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199870
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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