A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876146



Internal ID22651106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53671695..53671881hg38UCSC Ensembl
chr2:53898832..53899018hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405935
Samples
Known GenesASB3, GPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876146
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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