A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17424534



Internal ID22482404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117956572..118031436hg38UCSC Ensembl
chr5:117292267..117367131hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3874865
hg1974865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5891239
Supporting Variants
Samples
Known GenesLOC102467224
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17424534
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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