A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896233



Internal ID22671322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146190128..146855608hg38UCSC Ensembl
chr4:147111280..147776760hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38665481
hg19665481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427253
Samples
Known GenesMIR7849, POU4F2, SLC10A7, TTC29
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896233
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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