A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707298



Internal ID130964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31404307..31407624hg38UCSC Ensembl
chr16:31415628..31418945hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383318
hg193318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529175
Supporting Variants
Samples
Known GenesITGAD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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