A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498775



Internal ID20871988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2433585..2664850hg38UCSC Ensembl
chr17:2336879..2568144hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38231266
hg19231266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2974n223
Supporting Variantsnssv18179999
Samples
Known GenesMETTL16, PAFAH1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498775
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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