A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955812



Internal ID22731010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196563573..196563573hg38UCSC Ensembl
chr3:196290444..196290444hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415498
Samples
Known GenesWDR53
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955812
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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