A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425673



Internal ID204630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175996587..176009000hg38UCSC Ensembl
chr1:175965723..175978136hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3812414
hg1912414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893582
Samples
Known GenesRFWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425673
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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