A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6453002



Internal ID21110555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100512435..100608282hg38UCSC Ensembl
chr10:102272192..102368039hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3895848
hg1995848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196192
Samples
Known GenesHIF1AN, NDUFB8, SEC31B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6453002
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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