A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900644



Internal ID22675787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52499608..52499919hg38UCSC Ensembl
chr3:52533624..52533935hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428776
Samples
Known GenesSTAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900644
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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