A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6510573



Internal ID20883893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48247011..48247472hg38UCSC Ensembl
chr16:48280922..48281383hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194006
Samples
Known GenesLONP2, MIR548AE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6510573
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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