A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2799442



Internal ID21244780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2349188..2349188hg38UCSC Ensembl
chr19:2349186..2349186hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13692920
Samples
Known GenesSPPL2B
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2799442
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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