A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505481



Internal ID20878751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47983720..48159925hg38UCSC Ensembl
chr16:48017631..48193836hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38176206
hg19176206
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187474
Samples
Known GenesABCC12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505481
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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