A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503149



Internal ID279991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95245987..95246047hg38UCSC Ensembl
chr14:95712324..95712384hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698632
Samples
Known GenesCLMN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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