A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6491388



Internal ID21148941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61748301..61755500hg38UCSC Ensembl
chr14:62215019..62222218hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387200
hg197200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195753
Samples
Known GenesHIF1A-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6491388
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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