A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420396



Internal ID199501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51824119..51897669hg38UCSC Ensembl
chr1:52289791..52363341hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3873551
hg1973551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902743
Samples
Known GenesMIR761, NRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420396
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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