A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888663



Internal ID22663672
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 Variantsnssv17420563
Samples
Known GenesPIGZ
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888663
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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