A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355576



Internal ID22581245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216062034..216066073hg38UCSC Ensembl
chr1:216235376..216239415hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384040
hg194040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872790
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355576
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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