A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945613



Internal ID22721093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3057512..3057636hg38UCSC Ensembl
chr19:3057510..3057634hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401511
Samples
Known GenesAES
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945613
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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