A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485907



Internal ID21143460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61739801..61783900hg38UCSC Ensembl
chr14:62206519..62250618hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3844100
hg1944100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181420
Samples
Known GenesHIF1A, HIF1A-AS2, SNAPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485907
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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