A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903743



Internal ID22678912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119121855..119122903hg38UCSC Ensembl
chr5:118457550..118458598hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415783
Samples
Known GenesDMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903743
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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