A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707641



Internal ID131307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29893963..29895057hg38UCSC Ensembl
chr16:29905284..29906378hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520469
Supporting Variants
Samples
Known GenesSEZ6L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707641
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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