A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567690



Internal ID21516028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196948961..196949040hg38UCSC Ensembl
chr3:196675832..196675911hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17120281
SamplesNA12878
Known GenesPIGZ
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567690
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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