A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500046



Internal ID20873271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48092547..48093662hg38UCSC Ensembl
chr16:48126458..48127573hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18029902
Samples
Known GenesABCC12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500046
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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