A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488257



Internal ID265576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158525130..158738187hg38UCSC Ensembl
chr7:158317822..158530878hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38213058
hg19213057
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006996
Samples
Known GenesESYT2, MIR5707, MIR595, NCAPG2, PTPRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488257
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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