A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955781



Internal ID22730979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214465951..214465951hg38UCSC Ensembl
chr1:214639294..214639294hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364002
Samples
Known GenesPTPN14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955781
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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