A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356723



Internal ID22582392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154105189..154105494hg38UCSC Ensembl
chr1:154077665..154077970hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870799
Supporting Variants
Samples
Known GenesNUP210L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356723
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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