A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422531



Internal ID201573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175373236..175376795hg38UCSC Ensembl
chr1:175342372..175345931hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv31n206
Supporting Variantsnssv16891990
Samples
Known GenesTNR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422531
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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