A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379348



Internal ID22437218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100843817..100846399hg38UCSC Ensembl
chr14:101310154..101312736hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382583
hg192583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944321
Supporting Variants
Samples
Known GenesMEG3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379348
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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