A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874623



Internal ID22649577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165246820..165246870hg38UCSC Ensembl
chr1:165216057..165216107hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364253
Samples
Known GenesLMX1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874623
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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