A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511551



Internal ID20884880
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 StatusM
Merged Variants
Supporting Variantsnssv18028920
Samples
Known GenesSETD1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511551
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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