A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511417



Internal ID20884744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5035279..5037221hg38UCSC Ensembl
chr16:5085280..5087222hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18030008
Samples
Known GenesNAGPA-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511417
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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