A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539599



Internal ID22408756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47362785..47362785hg38UCSC Ensembl
chr7:47402383..47402383hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14427462
SamplesHG00514
Known GenesTNS3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3539599
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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