A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367896



Internal ID22593565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216058135..216058650hg38UCSC Ensembl
chr1:216231477..216231992hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870224
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367896
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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