A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5881288



Internal ID22656263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172005137..172005211hg38UCSC Ensembl
chr1:171974277..171974351hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354946
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5881288
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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