A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953571



Internal ID22728850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212801296..212801296hg38UCSC Ensembl
chr1:212974638..212974638hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360145
Samples
Known GenesTATDN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953571
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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