A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870782



Internal ID22645718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154107288..154116067hg38UCSC Ensembl
chr1:154079764..154088543hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg388780
hg198780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357335
Samples
Known GenesNUP210L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870782
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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