A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874047



Internal ID22648997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154113972..154119416hg38UCSC Ensembl
chr1:154086448..154091892hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg385445
hg195445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368394
Samples
Known GenesNUP210L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874047
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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