A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390556



Internal ID22448426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113311464..113313757hg38UCSC Ensembl
chr3:113030311..113032604hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg382294
hg192294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892777
Supporting Variants
Samples
Known GenesWDR52
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390556
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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