A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654685



Internal ID21602990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30712058..30712058hg38UCSC Ensembl
chr14:31181264..31181264hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094300
SamplesHG02011
Known GenesSCFD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654685
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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