A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706714



Internal ID130380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1771000..1821000hg38UCSC Ensembl
chr16:1821001..1871001hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3850001
hg1950001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146026
Supporting Variants
Samples
Known GenesEME2, HAGH, IGFALS, MRPS34, NME3, NUBP2, SPSB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706714
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.076471


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