A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535083



Internal ID310795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46696414..46696451hg38UCSC Ensembl
chr6:46664151..46664188hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984803
Samples
Known GenesTDRD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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