A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946983



Internal ID22722483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48256369..48263509hg38UCSC Ensembl
chr14:48725572..48732712hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387141
hg197141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383901
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946983
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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