A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498361



Internal ID20871571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58616401..58799700hg38UCSC Ensembl
chr16:58650305..58833604hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38183300
hg19183300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191604
Samples
Known GenesCNOT1, GOT2, SLC38A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498361
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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