A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144786



Internal ID343991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81913133..81933133hg38UCSC Ensembl
chr17:79871009..79891009hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715624
Samples
Known GenesMAFG, MAFG-AS1, PYCR1, SIRT7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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