A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830367



Internal ID22605302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53886307..53887756hg38UCSC Ensembl
chr1:54351980..54353429hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17480508, nssv17480100
Samples
Known GenesYIPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830367
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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