A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529175



Internal ID305209
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 StatusM
Merged Variants
Supporting Variantsnssv17707298
Samples
Known GenesITGAD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529175
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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