A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889990



Internal ID22665014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43486901..43495521hg38UCSC Ensembl
chr6:43454639..43463259hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg388621
hg198621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442092
Samples
Known GenesTJAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889990
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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