A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888985



Internal ID22663996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46747871..46748011hg38UCSC Ensembl
chr4:46749888..46750028hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416384
Samples
Known GenesCOX7B2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888985
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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