A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947075



Internal ID22722576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13996837..13999788hg38UCSC Ensembl
chr19:14107649..14110600hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382952
hg192952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393093
Samples
Known GenesRFX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947075
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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