A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893111



Internal ID22668168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177144224..177144998hg38UCSC Ensembl
chr5:176571225..176571999hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416011
Samples
Known GenesNSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893111
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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