A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482730



Internal ID21140283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50029289..50035671hg38UCSC Ensembl
chr14:50496007..50502389hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg386383
hg196383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019720
Samples
Known GenesLOC100506499
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482730
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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