A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878737



Internal ID22653701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149957135..149957486hg38UCSC Ensembl
chr1:149929047..149929398hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369213
Samples
Known GenesOTUD7B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878737
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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