A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431073



Internal ID209858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109590493..109903664hg38UCSC Ensembl
chr1:110133115..110446286hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38313172
hg19313172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907995
Samples
Known GenesAMPD2, EPS8L3, GNAI3, GNAT2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, MIR197
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431073
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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