A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869404



Internal ID22644339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53901974..53904056hg38UCSC Ensembl
chr1:54367647..54369729hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382083
hg192083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384812
Samples
Known GenesDIO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869404
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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