A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912553



Internal ID22687769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73951365..73952907hg38UCSC Ensembl
chr11:73662410..73663952hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381543
hg191543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350467
Samples
Known GenesDNAJB13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912553
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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