A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184961



Internal ID20752001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31471084..31594845hg38UCSC Ensembl
chr16:31482405..31606166hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38123762
hg19123762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515405
Supporting Variants
Samples
Known GenesAHSP, C16orf58, SLC5A2, TGFB1I1, YBX3P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184961
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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