A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16990806



Internal ID61282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160037178..160037230hg38UCSC Ensembl
chr6:160458210..160458262hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466585
Supporting Variants
Samples
Known GenesIGF2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16990806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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