A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357433



Internal ID22583102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21738225..21740077hg38UCSC Ensembl
chr1:22064718..22066570hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381853
hg191853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886722
Supporting Variants
Samples
Known GenesUSP48
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357433
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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