A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5828247



Internal ID22603182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154220277..154221554hg38UCSC Ensembl
chr1:154192753..154194030hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381278
hg191278
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17460431, nssv17466741
Samples
Known GenesC1orf43, UBAP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5828247
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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