A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464715



Internal ID242586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56974472..56977765hg38UCSC Ensembl
chr4:57840638..57843931hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383294
hg193294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951148
Samples
Known GenesNOA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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