A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453702



Internal ID231816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225187571..225229891hg38UCSC Ensembl
chr1:225375273..225417593hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3842321
hg1942321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897359
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453702
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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