A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899067



Internal ID22674193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53207116..53225331hg38UCSC Ensembl
chr4:54073283..54091498hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3818216
hg1918216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413235
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899067
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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