A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420300



Internal ID22478170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82992804..82998319hg38UCSC Ensembl
chr4:83913957..83919472hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg385516
hg195516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896848
Supporting Variants
Samples
Known GenesLIN54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420300
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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