A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830356



Internal ID22605291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50172394..50185014hg38UCSC Ensembl
chr1:50638066..50650686hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3812621
hg1912621
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17480071
Samples
Known GenesELAVL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830356
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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