A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503491



Internal ID20876746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75619210..75640628hg38UCSC Ensembl
chr16:75653108..75674526hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3821419
hg1921419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180275
Samples
Known GenesADAT1, KARS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503491
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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