A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430057



Internal ID22487927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144740102..144744474hg38UCSC Ensembl
chr8:145965487..145969859hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384373
hg194373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5922231
Supporting Variants
Samples
Known GenesZNF251
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430057
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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