A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484533



Internal ID21142086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49758925..49787424hg38UCSC Ensembl
chr14:50225643..50254142hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3828500
hg1928500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184551
Samples
Known GenesKLHDC2, NEMF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484533
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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