A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430120



Internal ID208943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151907096..151907172hg38UCSC Ensembl
chr1:151879572..151879648hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889229
Samples
Known GenesTHEM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430120
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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