A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498367



Internal ID275358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96385665..96405537hg38UCSC Ensembl
chr14:96852002..96871874hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3819873
hg1919873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698690
Samples
Known GenesAK7, GSKIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498367
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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