A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431199



Internal ID209982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175460980..175792704hg38UCSC Ensembl
chr1:175430116..175761840hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38331725
hg19331725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891997
Samples
Known GenesTNR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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