A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428574



Internal ID207441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173989844..173990720hg38UCSC Ensembl
chr1:173958982..173959858hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891711
Samples
Known GenesRC3H1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428574
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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