A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506750



Internal ID20880034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48159601..48293200hg38UCSC Ensembl
chr16:48193512..48327111hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38133600
hg19133600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18029904
Samples
Known GenesABCC11, LONP2, MIR548AE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506750
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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