A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947282



Internal ID22722785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88404008..88467150hg38UCSC Ensembl
chr14:88870352..88933494hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3863143
hg1963143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386277
Samples
Known GenesPTPN21, SPATA7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947282
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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