A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416011



Internal ID22473881
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 StatusS
Merged Variantsnsv5893111
Supporting Variants
Samples
Known GenesNSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416011
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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