A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462109



Internal ID240044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175785135..176386595hg38UCSC Ensembl
chr4:176706286..177307746hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38601461
hg19601461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960214
Samples
Known GenesASB5, GPM6A, SPATA4, SPCS3, WDR17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462109
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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