A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18028920



Internal ID20595960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30972397..30978089hg38UCSC Ensembl
chr16:30983718..30989410hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385693
hg195693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511551
Supporting Variants
Samples
Known GenesSETD1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18028920
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00293


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