A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5565247



Internal ID21513559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196953781..196953907hg38UCSC Ensembl
chr3:196680652..196680778hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121538
SamplesHG03371
Known GenesPIGZ
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5565247
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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