A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944832



Internal ID22720302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13100987..13105130hg38UCSC Ensembl
chr16:13194844..13198987hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg384144
hg194144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374615
Samples
Known GenesSHISA9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944832
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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