A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6501228



Internal ID20874460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27513620..27735237hg38UCSC Ensembl
chr16:27524941..27746558hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38221618
hg19221618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179933
Samples
Known GenesGTF3C1, KIAA0556
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6501228
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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