A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995594



Internal ID64502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47554826..47566886hg38UCSC Ensembl
chr7:47594424..47606484hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3812061
hg1912061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490351
Supporting Variants
Samples
Known GenesTNS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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